Variant report

Variant	rs62285217
Chromosome Location	chr3:194871405-194871406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr3:194870892-194871668	K562	blood:	n/a	n/a
2	EGR1	chr3:194871234-194871865	H1-hESC	embryonic stem cell:	n/a	chr3:194871795-194871810
3	BACH1	chr3:194871366-194871581	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:194870649-194871834	GM12891	blood:	n/a	n/a
5	TAL1	chr3:194870745-194871571	K562	blood:	n/a	chr3:194871303-194871321
6	POLR2A	chr3:194870527-194871913	GM12892	blood:	n/a	n/a
7	TEAD4	chr3:194870629-194871694	K562	blood:	n/a	n/a
8	CEBPB	chr3:194870532-194871828	GM12878	blood:	n/a	n/a
9	SPI1	chr3:194871241-194871534	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:194868265-194872140	GM12891	blood:	n/a	n/a
11	MAX	chr3:194870818-194871780	K562	blood:	n/a	chr3:194871226-194871236
12	JUND	chr3:194870895-194871723	K562	blood:	n/a	n/a
13	RAD21	chr3:194871082-194871459	IMR90	lung:	n/a	n/a
14	POLR2A	chr3:194868269-194872203	HUVEC	blood vessel:	n/a	n/a
15	HMGN3	chr3:194871046-194871490	K562	blood:	n/a	n/a
16	YY1	chr3:194871016-194871796	GM12878	blood:	n/a	n/a
17	BHLHE40	chr3:194870973-194871690	GM12878	blood:	n/a	n/a
18	YY1	chr3:194870990-194871549	K562	blood:	n/a	n/a
19	TBP	chr3:194871107-194871590	K562	blood:	n/a	n/a
20	MXI1	chr3:194871218-194871594	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:194868355-194872209	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr3:194870969-194871760	GM12878	blood:	n/a	n/a
23	CTCF	chr3:194871400-194871550	GM12869	blood:	n/a	n/a
24	TAF1	chr3:194871219-194871653	GM12892	blood:	n/a	n/a
25	CHD1	chr3:194868421-194871809	GM12878	blood:	n/a	n/a
26	GABPA	chr3:194871232-194871750	K562	blood:	n/a	n/a
27	EBF1	chr3:194870950-194871542	GM12878	blood:	n/a	chr3:194871110-194871123 chr3:194871111-194871121 chr3:194871110-194871121 chr3:194871112-194871121
28	YY1	chr3:194871126-194871517	K562	blood:	n/a	n/a
29	POLR2A	chr3:194870510-194871879	GM12892	blood:	n/a	n/a
30	ELF1	chr3:194870966-194871898	GM12878	blood:	n/a	chr3:194871400-194871411 chr3:194871401-194871410 chr3:194871398-194871411
31	NFATC1	chr3:194870293-194872040	GM12878	blood:	n/a	n/a
32	MAFK	chr3:194870622-194871623	K562	blood:	n/a	n/a
33	TAF1	chr3:194871245-194871562	GM12891	blood:	n/a	n/a
34	RCOR1	chr3:194870648-194871869	IMR90	lung:	n/a	n/a
35	BRCA1	chr3:194871087-194871638	GM12878	blood:	n/a	n/a
36	IKZF1	chr3:194870716-194871962	GM12878	blood:	n/a	n/a
37	IRF1	chr3:194870909-194871839	K562	blood:	n/a	chr3:194871396-194871410 chr3:194871392-194871409 chr3:194871397-194871410 chr3:194871395-194871409 chr3:194871391-194871411
38	TBL1XR1	chr3:194870880-194871760	K562	blood:	n/a	n/a
39	EP300	chr3:194870846-194871722	K562	blood:	n/a	chr3:194871091-194871104 chr3:194871375-194871391
40	MAX	chr3:194871138-194871544	NB4	blood:	n/a	chr3:194871226-194871236
41	MYC	chr3:194871133-194871408	MCF10A-Er-Src	breast:	n/a	chr3:194871226-194871236
42	ZNF143	chr3:194870804-194871703	K562	blood:	n/a	chr3:194871685-194871703
43	TBP	chr3:194870866-194871856	GM12878	blood:	n/a	n/a
44	POLR2A	chr3:194870114-194872071	GM19193	blood:	n/a	n/a
45	WRNIP1	chr3:194870098-194872012	GM12878	blood:	n/a	n/a
46	BCLAF1	chr3:194870688-194871841	GM12878	blood:	n/a	n/a
47	E2F4	chr3:194871073-194871468	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr3:194871199-194871480	K562	blood:	n/a	chr3:194871199-194871212
49	JUND	chr3:194871173-194871612	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr3:194870924-194871568	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:194871135..194873773-chr3:194909112..194911185,2	K562	blood:
2	chr3:194869726..194872527-chr3:194883949..194885510,2	K562	blood:
3	chr3:194870262..194872274-chr3:194880520..194882642,2	K562	blood:
4	chr3:194870603..194872968-chr3:194930308..194933039,3	K562	blood:
5	chr3:194870056..194873329-chr3:194873550..194878227,7	K562	blood:

Variant related genes	Relation type
RN7SL36P	TF binding region
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11707112	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11710992	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874100	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1874104	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2279633	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58948928	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59361541	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59910866	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60922537	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62285221	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62285224	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285225	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285226	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285227	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62285228	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285231	0.94[ASN][1000 genomes]
rs62290329	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62290330	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62290331	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62290344	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62290347	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62290351	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62290352	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62290354	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7616009	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs873120	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs952586	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
2	chr3:194861000-194881000	Weak transcription	Hela-S3	cervix
3	chr3:194861200-194872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:194861800-194872800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:194861800-194875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:194862400-194897800	Weak transcription	Dnd41	blood
7	chr3:194867200-194871800	Enhancers	Spleen	Spleen
8	chr3:194867800-194872000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:194867800-194872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:194868200-194871800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:194868200-194872000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr3:194868200-194872200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr3:194868200-194872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:194868200-194877800	Enhancers	Fetal Stomach	stomach
15	chr3:194868400-194872000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:194868400-194877400	Enhancers	Fetal Heart	heart
17	chr3:194868600-194871800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194868800-194875000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:194868800-194885400	Enhancers	Fetal Muscle Leg	muscle
20	chr3:194869000-194871600	Weak transcription	HepG2	liver
21	chr3:194869400-194871800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:194869600-194876400	Enhancers	NHDF-Ad	bronchial
23	chr3:194869800-194876600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:194870000-194871800	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:194870200-194871600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr3:194870200-194871800	Flanking Active TSS	NHLF	lung
27	chr3:194870200-194872200	Enhancers	Lung	lung
28	chr3:194870400-194871800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:194870600-194871600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr3:194870600-194871800	Flanking Active TSS	K562	blood
31	chr3:194870800-194871600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:194870800-194871600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:194870800-194871600	Flanking Active TSS	Fetal Lung	lung
34	chr3:194870800-194871600	Flanking Active TSS	Placenta	Placenta
35	chr3:194870800-194871600	Active TSS	Gastric	stomach
36	chr3:194870800-194871600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr3:194870800-194871600	Flanking Active TSS	Right Atrium	heart
38	chr3:194870800-194871800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:194870800-194871800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr3:194870800-194871800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:194870800-194871800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:194870800-194871800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr3:194870800-194871800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:194870800-194871800	Flanking Active TSS	Pancreas	Pancrea
45	chr3:194870800-194871800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr3:194870800-194871800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr3:194870800-194872000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr3:194870800-194877600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:194871000-194871600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr3:194871000-194871600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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