Variant report

Variant	rs537676314
Chromosome Location	chr22:34317406-34317407
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	JUND	chr22:34316844-34317497	A549	lung:	n/a	n/a
2	TAF1	chr22:34316835-34317429	MCF-7	breast:	n/a	n/a
3	MAX	chr22:34316794-34317746	HepG2	liver:	n/a	n/a
4	JUND	chr22:34316919-34317567	MCF-7	breast:	n/a	n/a
5	POLR2A	chr22:34316614-34318820	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr22:34316667-34318772	SK-N-SH	brain:	n/a	n/a
7	SP1	chr22:34316947-34317479	H1-hESC	embryonic stem cell:	n/a	chr22:34317042-34317051 chr22:34317167-34317179 chr22:34317167-34317179 chr22:34317185-34317197 chr22:34317168-34317182 chr22:34317167-34317178 chr22:34317169-34317178 chr22:34317168-34317177
8	EBF1	chr22:34317146-34317413	GM12878	blood:	n/a	n/a
9	ELF1	chr22:34316865-34318227	GM12878	blood:	n/a	chr22:34317609-34317620
10	MXI1	chr22:34316827-34317436	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:34316208-34317428	NB4	blood:	n/a	n/a
12	EGR1	chr22:34316901-34317460	MCF-7	breast:	n/a	chr22:34317153-34317163 chr22:34317153-34317166 chr22:34317152-34317166 chr22:34317153-34317166 chr22:34317153-34317166 chr22:34317055-34317069 chr22:34317154-34317163 chr22:34317153-34317166 chr22:34317148-34317170
13	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
14	POLR2A	chr22:34316648-34317420	IMR90	lung:	n/a	n/a
15	TAF1	chr22:34316732-34317468	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr22:34317132-34317420	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:34317260-34317440	H1-hESC	embryonic stem cell:	n/a	n/a
18	GTF2F1	chr22:34316919-34317541	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr22:34316855-34317451	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr22:34316876-34317610	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr22:34316704-34317589	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr22:34316969-34317431	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:34316768-34317507	GM12878	blood:	n/a	n/a
24	MAX	chr22:34316834-34317633	NB4	blood:	n/a	n/a
25	RAD21	chr22:34316897-34318086	IMR90	lung:	n/a	n/a
26	POLR2A	chr22:34316739-34317623	H1-neurons	neurons:	n/a	n/a
27	MAX	chr22:34316917-34317569	A549	lung:	n/a	n/a
28	REST	chr22:34316631-34318913	H1-neurons	neurons:	n/a	chr22:34318453-34318460 chr22:34317994-34318004 chr22:34317418-34317432
29	ELF1	chr22:34316952-34317542	MCF-7	breast:	n/a	n/a
30	MXI1	chr22:34315329-34318225	IMR90	lung:	n/a	n/a
31	MAX	chr22:34316901-34317437	GM12878	blood:	n/a	n/a
32	POLR2A	chr22:34315348-34317475	GM12892	blood:	n/a	n/a
33	POLR2A	chr22:34316633-34318119	MCF-7	breast:	n/a	n/a
34	YY1	chr22:34317041-34317412	H1-hESC	embryonic stem cell:	n/a	chr22:34317167-34317181 chr22:34317129-34317140
35	POLR2A	chr22:34316707-34317471	GM12892	blood:	n/a	n/a
36	SP1	chr22:34316919-34317433	A549	lung:	n/a	chr22:34317042-34317051 chr22:34317167-34317179 chr22:34317167-34317179 chr22:34317185-34317197 chr22:34317168-34317182 chr22:34317167-34317178 chr22:34317169-34317178 chr22:34317168-34317177
37	PAX5	chr22:34316846-34317458	GM12892	blood:	n/a	chr22:34317362-34317380 chr22:34317015-34317033 chr22:34317363-34317382
38	SIN3AK20	chr22:34316833-34317675	MCF-7	breast:	n/a	n/a
39	SP1	chr22:34316936-34317431	GM12878	blood:	n/a	chr22:34317042-34317051 chr22:34317167-34317179 chr22:34317167-34317179 chr22:34317185-34317197 chr22:34317168-34317182 chr22:34317167-34317178 chr22:34317169-34317178 chr22:34317168-34317177
40	E2F6	chr22:34317064-34318591	H1-hESC	embryonic stem cell:	n/a	chr22:34318201-34318208 chr22:34318193-34318202 chr22:34318201-34318208 chr22:34318197-34318209 chr22:34318201-34318208
41	HA-E2F1	chr22:34316955-34318089	MCF-7	breast:	n/a	n/a
42	MAZ	chr22:34316857-34317436	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:34316319-34317518	ProgFib	skin:	n/a	n/a
44	ZNF263	chr22:34316897-34318115	HEK293-T-REx	kidney:	n/a	chr22:34317861-34317882 chr22:34317901-34317922
45	RFX5	chr22:34316968-34317579	HepG2	liver:	n/a	n/a
46	MYC	chr22:34316969-34317465	NB4	blood:	n/a	n/a
47	POLR2A	chr22:34316667-34318194	MCF-7	breast:	n/a	n/a
48	POLR2A	chr22:34316755-34317464	GM19193	blood:	n/a	n/a
49	ELF1	chr22:34316834-34317421	GM12878	blood:	n/a	n/a
50	EGR1	chr22:34316895-34317448	H1-hESC	embryonic stem cell:	n/a	chr22:34317153-34317163 chr22:34317153-34317166 chr22:34317152-34317166 chr22:34317153-34317166 chr22:34317153-34317166 chr22:34317055-34317069 chr22:34317154-34317163 chr22:34317153-34317166 chr22:34317148-34317170

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34255666..34258346-chr22:34316396..34318049,2	MCF-7	breast:
2	chr22:34283913..34285789-chr22:34315526..34317915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	TF binding region
LARGE	TF binding region
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3340037	chr22:34315352-34318150	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3513361	chr22:34315502-34318800	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3513362	chr22:34315502-34318800	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3440277	chr22:34315777-34318325	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr22:34314000-34319000	Active TSS	Right Atrium	heart
4	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
6	chr22:34314800-34318600	Active TSS	Gastric	stomach
7	chr22:34315000-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:34315000-34319200	Active TSS	Psoas Muscle	Psoas
9	chr22:34315200-34318600	Active TSS	HSMM	muscle
10	chr22:34315200-34318800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:34315200-34318800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr22:34315200-34318800	Active TSS	NHLF	lung
13	chr22:34315200-34319000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:34315200-34319200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr22:34315200-34319200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:34315200-34319400	Active TSS	Right Ventricle	heart
17	chr22:34315400-34318600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:34315400-34318600	Active TSS	Lung	lung
19	chr22:34315400-34319000	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr22:34315400-34319200	Active TSS	Aorta	Aorta
21	chr22:34315600-34318200	Active TSS	Small Intestine	intestine
22	chr22:34315600-34318400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:34315600-34318400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:34315600-34318800	Active TSS	Colonic Mucosa	Colon
25	chr22:34315600-34319000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:34315600-34319200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr22:34315600-34319200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr22:34315800-34317600	Active TSS	Osteobl	bone
29	chr22:34315800-34318400	Active TSS	NH-A	brain
30	chr22:34315800-34318600	Active TSS	NHEK	skin
31	chr22:34315800-34318800	Active TSS	Pancreas	Pancrea
32	chr22:34315800-34319200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr22:34315800-34319200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:34315800-34319400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:34316000-34318600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:34316000-34318800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr22:34316000-34318800	Active TSS	Stomach Smooth Muscle	stomach
38	chr22:34316000-34319000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr22:34316000-34320000	Active TSS	Ovary	ovary
40	chr22:34316200-34317600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:34316200-34318600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:34316200-34318600	Active TSS	Fetal Brain Female	brain
43	chr22:34316200-34319000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr22:34316200-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:34316400-34319200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:34317000-34318000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr22:34317200-34317600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr22:34317200-34317600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr22:34317200-34317600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:34317200-34317600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links