Variant report

Variant	rs34893620
Chromosome Location	chr3:160823272-160823273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:160822503-160823353	ProgFib	skin:	n/a	n/a
2	GABPA	chr3:160822071-160823714	MCF-7	breast:	n/a	n/a
3	MAX	chr3:160822234-160823527	HCT-116	colon:	n/a	n/a
4	CTCF	chr3:160823098-160823307	MCF-7	breast:	n/a	n/a
5	TBP	chr3:160822375-160823386	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr3:160822700-160823318	GM12891	blood:	n/a	chr3:160822736-160822750 chr3:160822723-160822737 chr3:160822718-160822732
7	TEAD4	chr3:160822190-160823454	H1-hESC	embryonic stem cell:	n/a	chr3:160822474-160822483
8	ELF1	chr3:160822220-160823507	MCF-7	breast:	n/a	chr3:160823439-160823450
9	MAX	chr3:160822276-160823468	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:160823163-160823281	GM19240	blood:	n/a	n/a
11	CTCF	chr3:160823160-160823310	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr3:160822320-160823501	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:160822192-160823442	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:160823157-160823341	Spleen_OC	spleen:	n/a	n/a
15	POLR2A	chr3:160822440-160823333	Gliobla	brain:	n/a	n/a
16	POLR2A	chr3:160822640-160823286	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr3:160822522-160823338	GM18951	blood:	n/a	n/a
18	CTCF	chr3:160823180-160823330	SK-N-SH_RA	brain:	n/a	n/a
19	MAX	chr3:160821640-160823909	MCF-7	breast:	n/a	n/a
20	POLR2A	chr3:160822522-160823377	GM19099	blood:	n/a	n/a
21	MYC	chr3:160823004-160823326	H1-hESC	embryonic stem cell:	n/a	n/a
22	HA-E2F1	chr3:160822200-160823635	MCF-7	breast:	n/a	chr3:160823207-160823221 chr3:160823210-160823224 chr3:160822776-160822788
23	POLR2A	chr3:160822548-160823301	GM15510	blood:	n/a	n/a
24	MAX	chr3:160822746-160823369	K562	blood:	n/a	n/a
25	CTCF	chr3:160823024-160823314	MCF-7	breast:	n/a	n/a
26	MYC	chr3:160822490-160823333	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:160822386-160823399	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:160822529-160823345	HUVEC	blood vessel:	n/a	n/a
29	E2F6	chr3:160822061-160823742	H1-hESC	embryonic stem cell:	n/a	chr3:160823207-160823221 chr3:160823210-160823224 chr3:160822776-160822788
30	HDAC2	chr3:160821953-160823716	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:160823168-160823294	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:160822992-160823330	GM19239	blood:	n/a	n/a
33	CTCF	chr3:160823197-160823275	ProgFib	skin:	n/a	n/a
34	POLR2A	chr3:160822687-160823281	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr3:160823151-160823309	MCF-7	breast:	n/a	n/a
36	MYC	chr3:160822546-160823291	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:160823111-160823320	GM12891	blood:	n/a	n/a
38	CTCF	chr3:160823160-160823310	HRE	kidney:	n/a	n/a
39	POLR2A	chr3:160822344-160823455	HUVEC	blood vessel:	n/a	n/a
40	TCF7L2	chr3:160823114-160823287	PANC-1	pancreas:	n/a	n/a
41	SIN3A	chr3:160822337-160823305	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr3:160822909-160823352	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr3:160823160-160823310	GM12871	blood:	n/a	n/a
44	CTCF	chr3:160823160-160823299	GM13977	blood:	n/a	n/a
45	YY1	chr3:160822921-160823324	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr3:160822343-160823545	H1-hESC	embryonic stem cell:	n/a	chr3:160823207-160823221 chr3:160823210-160823224 chr3:160822776-160822788
47	E2F6	chr3:160822689-160823330	K562	blood:	n/a	chr3:160823207-160823221 chr3:160823210-160823224 chr3:160822776-160822788
48	CTCF	chr3:160823180-160823330	GM12875	blood:	n/a	n/a
49	RAD21	chr3:160822353-160823360	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr3:160823240-160823390	GM12865	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:160823255-160823305	HRCEpiC	kidney:	n/a
2	chr3:160823231-160823281	CMK	blood:	n/a
3	chr3:160823231-160823281	NHBE	bronchial:	n/a
4	chr3:160823255-160823305	A549	lung:	n/a
5	chr3:160823255-160823305	RPTEC	kidney:	n/a
6	chr3:160823231-160823281	HNPCEpiC	eye:	n/a
7	chr3:160823231-160823281	AG04449	skin:	fetal
8	chr3:160823255-160823305	HEEpiC	esophagus:	n/a
9	chr3:160823231-160823281	HL-60	blood:	n/a
10	chr3:160823255-160823305	H1-hESC	embryonic stem cell:	embryo
11	chr3:160823255-160823305	GM12891	blood:	n/a
12	chr3:160823231-160823281	K562	blood:	n/a
13	chr3:160823231-160823281	SKMC	muscle:	n/a
14	chr3:160823231-160823281	HRE	kidney:	n/a
15	chr3:160823255-160823305	NB4	blood:	n/a
16	chr3:160823231-160823281	GM19239	blood:	n/a
17	chr3:160823255-160823305	HCM	heart:	n/a
18	chr3:160823231-160823281	HCM	heart:	n/a
19	chr3:160823231-160823281	AG10803	skin:	n/a
20	chr3:160823255-160823305	HCT-116	colon:	n/a
21	chr3:160823231-160823281	HUVEC	blood vessel:	n/a
22	chr3:160823255-160823305	MCF-7	breast:	n/a
23	chr3:160823255-160823305	LNCaP	prostate:	n/a
24	chr3:160823255-160823305	AG04449	skin:	fetal
25	chr3:160823255-160823305	MCF10A-Er-Src	breast:	n/a
26	chr3:160823231-160823281	H1-hESC	embryonic stem cell:	embryo
27	chr3:160823231-160823281	HAEpiC	amniotic membrane:	n/a
28	chr3:160823255-160823305	IMR90	lung:	fetal
29	chr3:160823255-160823305	HIPEpiC	eye:	n/a
30	chr3:160823231-160823281	NT2-D1	testis:	n/a
31	chr3:160823255-160823305	HL-60	blood:	n/a
32	chr3:160823231-160823281	IMR90	lung:	fetal
33	chr3:160823231-160823281	HMEC	breast:	n/a
34	chr3:160823255-160823305	CMK	blood:	n/a
35	chr3:160823231-160823281	Hepatocyte	liver:	n/a
36	chr3:160823255-160823305	GM06990	blood:	n/a
37	chr3:160823231-160823281	ovcar-3	ovarian:	n/a
38	chr3:160823231-160823281	HCF	heart:	n/a
39	chr3:160823255-160823305	U87	brain:	n/a
40	chr3:160823231-160823281	ProgFib	skin:	n/a
41	chr3:160823255-160823305	NH-A	brain:	n/a
42	chr3:160823255-160823305	T-47D	breast:	n/a
43	chr3:160823231-160823281	HRCEpiC	kidney:	n/a
44	chr3:160823231-160823281	GM12878	blood:	n/a
45	chr3:160823255-160823305	HMEC	breast:	n/a
46	chr3:160823231-160823281	GM12891	blood:	n/a
47	chr3:160823231-160823281	NH-A	brain:	n/a
48	chr3:160823231-160823281	SAEC	small airway:	n/a
49	chr3:160823255-160823305	PFSK-1	brain:	n/a
50	chr3:160823231-160823281	MCF10A-Er-Src	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160818503..160825890-chr3:160937051..160945986,18	MCF-7	breast:
2	chr3:160821182..160827138-chr3:160937374..160941314,7	MCF-7	breast:
3	chr3:160813033..160824577-chr3:161083489..161092050,35	MCF-7	breast:

No data

Variant related genes	Relation type
B3GALNT1	TF binding region
B3GALNT1	CpG island
ENSG00000271052	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000169251	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2231254	0.90[EUR][1000 genomes]
rs2231257	0.90[EUR][1000 genomes]
rs34445748	0.85[EUR][1000 genomes]
rs35614154	0.85[EUR][1000 genomes]
rs35667982	0.90[EUR][1000 genomes]
rs36011360	0.90[EUR][1000 genomes]
rs36051722	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv877704	chr3:160806859-160836006	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv877705	chr3:160818188-160836006	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877706	chr3:160820175-160826404	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877707	chr3:160820175-160836006	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3420135	chr3:160821883-160824431	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv877708	chr3:160821969-160826404	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv877709	chr3:160822198-160826404	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160821800-160823600	Active TSS	Brain Cingulate Gyrus	brain
2	chr3:160821800-160823600	Active TSS	Fetal Brain Female	brain
3	chr3:160821800-160823600	Active TSS	Stomach Smooth Muscle	stomach
4	chr3:160821800-160823800	Active TSS	Brain Substantia Nigra	brain
5	chr3:160821800-160824200	Active TSS	Fetal Kidney	kidney
6	chr3:160822000-160823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:160822000-160823400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:160822000-160823400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:160822000-160823400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:160822000-160823400	Active TSS	Primary T cells from cord blood	blood
11	chr3:160822000-160823400	Active TSS	Muscle Satellite Cultured Cells	--
12	chr3:160822000-160823400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr3:160822000-160823400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:160822000-160823400	Active TSS	Aorta	Aorta
15	chr3:160822000-160823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:160822000-160823400	Active TSS	Lung	lung
17	chr3:160822000-160823400	Active TSS	Right Atrium	heart
18	chr3:160822000-160823400	Flanking Active TSS	HMEC	breast
19	chr3:160822000-160823600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:160822000-160823600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:160822000-160823600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:160822000-160823600	Active TSS	Brain Angular Gyrus	brain
23	chr3:160822000-160823600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr3:160822000-160823600	Active TSS	Fetal Brain Male	brain
25	chr3:160822000-160823600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:160822000-160823600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr3:160822000-160823600	Active TSS	NHLF	lung
28	chr3:160822000-160823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:160822000-160823800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:160822200-160823400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:160822200-160823400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr3:160822200-160823400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:160822200-160823400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:160822200-160823400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr3:160822200-160823400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:160822200-160823400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr3:160822200-160823400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:160822200-160823400	Flanking Active TSS	Liver	Liver
39	chr3:160822200-160823400	Active TSS	Fetal Stomach	stomach
40	chr3:160822200-160823400	Active TSS	Gastric	stomach
41	chr3:160822200-160823400	Active TSS	Pancreas	Pancrea
42	chr3:160822200-160823400	Active TSS	Stomach Mucosa	stomach
43	chr3:160822200-160823400	Active TSS	HSMM	muscle
44	chr3:160822200-160823600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:160822200-160823800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:160822200-160823800	Active TSS	Fetal Lung	lung
47	chr3:160822400-160823400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr3:160822400-160823400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:160822400-160823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr3:160822400-160823400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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