Variant report

Variant	rs371540861
Chromosome Location	chr3:196043678-196043679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr3:196043600-196044050	GM12891	blood:	n/a	n/a
2	NFIC	chr3:196043627-196044100	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:196043663-196043962	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:196042901-196043690	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr3:196043585-196044715	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:196043628-196043988	GM12891	blood:	n/a	n/a
7	BATF	chr3:196043609-196044354	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:196043624-196044448	GM12891	blood:	n/a	n/a
9	POLR2A	chr3:196043571-196047499	HepG2	liver:	n/a	n/a
10	RUNX3	chr3:196043665-196043913	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:196043577-196045590	GM12878	blood:	n/a	n/a
12	CBX3	chr3:196043572-196044710	K562	blood:	n/a	n/a
13	NR2F2	chr3:196043567-196045424	K562	blood:	n/a	n/a
14	POLR2A	chr3:196043607-196045582	GM12892	blood:	n/a	n/a
15	PBX3	chr3:196043642-196044473	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:196043658-196044622	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:196043606-196045492	Hela-S3	cervix:	n/a	n/a
18	PAX5	chr3:196043617-196044599	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:196043612-196044114	PANC-1	pancreas:	n/a	n/a
20	IRF4	chr3:196043579-196044586	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:196043586-196044321	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr3:196043650-196045871	K562	blood:	n/a	n/a
23	POLR2A	chr3:196043445-196045600	GM12892	blood:	n/a	n/a
24	POLR2A	chr3:196043570-196045577	GM12878	blood:	n/a	n/a
25	PAX5	chr3:196043652-196043999	GM12878	blood:	n/a	n/a
26	RXRA	chr3:196043611-196044453	GM12878	blood:	n/a	n/a
27	POU2F2	chr3:196043579-196044725	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:196043609-196045487	GM12891	blood:	n/a	n/a
29	POLR2A	chr3:196043613-196045478	Hela-S3	cervix:	n/a	n/a
30	HEY1	chr3:196043608-196045514	K562	blood:	n/a	chr3:196044729-196044744 chr3:196045118-196045133 chr3:196045141-196045156
31	POLR2A	chr3:196042697-196043923	K562	blood:	n/a	n/a
32	PAX5	chr3:196043678-196044403	GM12878	blood:	n/a	n/a
33	IRF4	chr3:196043622-196044675	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:196043590-196044737	GM12891	blood:	n/a	n/a
35	POLR2A	chr3:196043476-196045531	GM12892	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196013567..196017227-chr3:196043342..196045325,4	MCF-7	breast:
2	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
3	chr3:196043128..196045052-chr3:196273376..196275560,2	MCF-7	breast:
4	chr3:196012377..196016502-chr3:196041586..196047553,11	K562	blood:
5	chr3:196043550..196045099-chr3:196157832..196159641,2	MCF-7	breast:
6	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
7	chr3:196030106..196032154-chr3:196042449..196045068,2	K562	blood:
8	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
9	chr3:196038505..196041350-chr3:196041984..196044639,3	K562	blood:
10	chr3:196013508..196016403-chr3:196043043..196046288,6	MCF-7	breast:

No data

Variant related genes	Relation type
TM4SF19-AS1	TF binding region
ENSG00000161217	Chromatin interaction
ENSG00000225822	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000163960	Chromatin interaction
ENSG00000212146	Chromatin interaction
ENSG00000145107	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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	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
3	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
4	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
5	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS 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	51 gene(s)	inside rSNPs	diseases
10	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic 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	33 gene(s)	inside rSNPs	diseases
14	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
18	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	esv3407163	chr3:196042555-196045153	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv3389071	chr3:196042555-196045453	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196015200-196044400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:196015400-196043800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:196015400-196043800	Weak transcription	Fetal Kidney	kidney
4	chr3:196015400-196043800	Weak transcription	Fetal Lung	lung
5	chr3:196015400-196044400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:196015400-196044400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:196015400-196044400	Weak transcription	Lung	lung
8	chr3:196015600-196043800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:196015600-196043800	Weak transcription	Brain Angular Gyrus	brain
10	chr3:196015600-196044200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:196015600-196044200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:196015600-196044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:196015800-196043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:196015800-196043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:196015800-196043800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:196015800-196043800	Weak transcription	HSMM	muscle
17	chr3:196015800-196044200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:196015800-196044400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:196018600-196044200	Weak transcription	Fetal Intestine Large	intestine
20	chr3:196023200-196044400	Weak transcription	Left Ventricle	heart
21	chr3:196023400-196044400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:196025200-196044400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:196025600-196043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:196026400-196044200	Weak transcription	Placenta	Placenta
25	chr3:196027400-196043800	Weak transcription	Thymus	Thymus
26	chr3:196027800-196044200	Weak transcription	Fetal Intestine Small	intestine
27	chr3:196028200-196043800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:196029000-196044200	Weak transcription	Brain Anterior Caudate	brain
29	chr3:196029600-196043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:196029600-196043800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:196030200-196044200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:196030600-196043800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:196031200-196043800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:196031400-196044200	Weak transcription	Fetal Thymus	thymus
35	chr3:196031400-196044400	Weak transcription	Right Atrium	heart
36	chr3:196031600-196044400	Weak transcription	Primary T cells from cord blood	blood
37	chr3:196032000-196043800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:196033000-196044400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:196033200-196043800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:196033200-196043800	Weak transcription	Fetal Brain Female	brain
41	chr3:196033200-196044200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:196033600-196043800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:196037200-196043800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:196038600-196044400	Weak transcription	Esophagus	oesophagus
45	chr3:196039000-196044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:196040600-196044400	Weak transcription	Liver	Liver
47	chr3:196041200-196044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:196041600-196044200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:196041600-196044200	Weak transcription	Fetal Stomach	stomach
50	chr3:196041600-196044200	Weak transcription	Monocytes-CD14+_RO01746	blood

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