Variant report

Variant	rs3817672
Chromosome Location	chr3:195800811-195800812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:195799871-195801039	K562	blood:	n/a	n/a
2	POLR2A	chr3:195800631-195801102	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:195800023-195800886	GM12892	blood:	n/a	n/a
4	WRNIP1	chr3:195800119-195800880	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:195799805-195800981	GM12878	blood:	n/a	n/a
6	PML	chr3:195798680-195801548	K562	blood:	n/a	n/a
7	POLR2A	chr3:195799996-195801019	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:195799961-195801502	PBDE	blood:	n/a	n/a
9	CTCF	chr3:195800740-195800890	NHDF-neo	bronchial:	n/a	n/a
10	POLR2A	chr3:195799858-195801554	K562	blood:	n/a	n/a
11	POLR2A	chr3:195798763-195801486	K562	blood:	n/a	n/a
12	POLR2A	chr3:195799984-195800984	HL-60	blood:	n/a	n/a
13	POLR2A	chr3:195795824-195801597	K562	blood:	n/a	n/a
14	POLR2A	chr3:195800643-195800992	K562	blood:	n/a	n/a
15	POLR2A	chr3:195799945-195801472	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:195799892-195801627	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:195800126-195800962	K562	blood:	n/a	n/a
18	CTCF	chr3:195799927-195800903	A549	lung:	n/a	n/a
19	POLR2A	chr3:195800625-195800906	GM12892	blood:	n/a	n/a
20	POLR2A	chr3:195799966-195800964	GM12892	blood:	n/a	n/a
21	SMC3	chr3:195799755-195801114	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr3:195772137-195801533	K562	blood:	n/a	n/a
23	POLR2A	chr3:195798776-195801043	K562	blood:	n/a	n/a
24	POLR2A	chr3:195799752-195801023	GM12878	blood:	n/a	n/a
25	SP1	chr3:195800723-195801045	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:195800623-195801020	GM12892	blood:	n/a	n/a
27	USF2	chr3:195800756-195800829	K562	blood:	n/a	chr3:195800784-195800800
28	TEAD4	chr3:195800092-195801056	K562	blood:	n/a	n/a
29	RAD21	chr3:195799955-195800914	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr3:195800748-195800935	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:195792841-195801151	K562	blood:	n/a	n/a
32	POLR2A	chr3:195799668-195801004	K562	blood:	n/a	n/a
33	POLR2A	chr3:195797652-195801609	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195796379..195810322-chr3:195910077..195926320,43	MCF-7	breast:
2	chr3:195785669..195789364-chr3:195799145..195802240,3	MCF-7	breast:
3	chr3:195799737..195801864-chr3:196158753..196160544,2	MCF-7	breast:
4	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
5	chr3:195798458..195803942-chr3:195919017..195926093,8	MCF-7	breast:
6	chr3:195800491..195804775-chr3:195913481..195918135,5	MCF-7	breast:
7	chr3:195790325..195795087-chr3:195795509..195801809,7	MCF-7	breast:
8	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:

No data

Variant related genes	Relation type
TFRC	TF binding region
ENSG00000222335	Chromatin interaction
ENSG00000163958	Chromatin interaction
ENSG00000163960	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11185506	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11705886	0.80[AFR][1000 genomes]
rs11718657	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11915082	0.82[AFR][1000 genomes]
rs12632706	0.85[LWK][hapmap];0.80[AFR][1000 genomes]
rs13072608	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239640	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2239641	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2284889	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2284890	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2300773	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300774	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300775	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300777	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2300778	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2300780	1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2638904	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3326	0.80[ASW][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs34221479	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35587059	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3761717	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789135	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3804139	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3804140	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300431	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41301371	0.82[AFR][1000 genomes]
rs422772	0.82[AFR][1000 genomes]
rs555412	0.80[ASW][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs714602	0.80[ASW][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.80[AFR][1000 genomes]
rs9846149	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9852239	0.89[ASN][1000 genomes]
rs9852883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9858727	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9859260	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9859401	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9863872	0.90[ASN][1000 genomes]
rs9867473	0.92[CEU][hapmap];0.91[TSI][hapmap]
rs9877119	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9990392	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	nsv1010395	chr3:195641908-195848264	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv1820982	chr3:195651349-195835519	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
14	nsv878172	chr3:195751853-195831098	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv524410	chr3:195776240-195816195	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
20	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
21	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195771400-195804000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:195773000-195802000	Strong transcription	Dnd41	blood
3	chr3:195773200-195805200	Strong transcription	Fetal Thymus	thymus
4	chr3:195774200-195803800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:195774200-195804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:195774400-195803800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr3:195774600-195803800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:195774600-195805400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:195774800-195803000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:195774800-195803400	Strong transcription	Left Ventricle	heart
11	chr3:195775000-195803200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:195775000-195806600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:195775200-195802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:195775200-195804000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:195775200-195804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:195775400-195802600	Strong transcription	Primary T cells from cord blood	blood
17	chr3:195775400-195802800	Strong transcription	Fetal Brain Female	brain
18	chr3:195775400-195803400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr3:195775400-195803800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr3:195775400-195804000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:195775400-195804000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr3:195775600-195802400	Strong transcription	NH-A	brain
23	chr3:195775600-195802800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:195775600-195803000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:195775600-195803400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:195775600-195804000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:195775800-195803200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:195775800-195803200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr3:195775800-195804000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:195775800-195804000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:195776000-195803400	Strong transcription	HUVEC	blood vessel
32	chr3:195776400-195802800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr3:195776400-195803000	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr3:195777000-195803400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:195777800-195804200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:195778400-195803400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:195778800-195803800	Strong transcription	Fetal Stomach	stomach
38	chr3:195780000-195803800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:195783000-195805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:195783200-195802600	Strong transcription	Adipose Nuclei	Adipose
41	chr3:195783200-195803600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:195783400-195803800	Strong transcription	HepG2	liver
43	chr3:195783400-195804000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:195783800-195804200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:195784000-195802600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:195784800-195804200	Strong transcription	HMEC	breast
47	chr3:195785200-195807400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:195785400-195802000	Strong transcription	Hela-S3	cervix
49	chr3:195785400-195802800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:195786200-195803400	Strong transcription	H1 Cell Line	embryonic stem cell

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