Variant report

Variant	rs7697501
Chromosome Location	chr4:8209460-8209461
allele	A/C
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	POLR2A	chr4:8209384-8209629	K562	blood:	n/a	n/a
2	POLR2A	chr4:8209370-8209774	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8201150..8205648-chr4:8206751..8210488,5	MCF-7	breast:
2	chr4:8193914..8196178-chr4:8208983..8211317,3	MCF-7	breast:
3	chr4:8202798..8206403-chr4:8207013..8209683,3	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11547949	0.83[EUR][1000 genomes]
rs11937992	1.00[EUR][1000 genomes]
rs28370452	0.83[EUR][1000 genomes]
rs28396639	0.83[EUR][1000 genomes]
rs28398157	0.83[EUR][1000 genomes]
rs28480201	0.83[EUR][1000 genomes]
rs28572135	0.83[EUR][1000 genomes]
rs28580669	0.83[EUR][1000 genomes]
rs28650262	0.83[EUR][1000 genomes]
rs28716092	0.83[EUR][1000 genomes]
rs57943070	0.81[EUR][1000 genomes]
rs59829176	0.83[EUR][1000 genomes]
rs73800408	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8203000-8216200	Weak transcription	Osteobl	bone
2	chr4:8203000-8216400	Weak transcription	Hela-S3	cervix
3	chr4:8203200-8222400	Weak transcription	Brain Substantia Nigra	brain
4	chr4:8203400-8210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:8203400-8216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:8203400-8216600	Weak transcription	Right Atrium	heart
7	chr4:8203600-8211200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:8203600-8216600	Weak transcription	Left Ventricle	heart
9	chr4:8203800-8216600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:8203800-8216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:8203800-8224800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:8204000-8216600	Weak transcription	Brain Anterior Caudate	brain
13	chr4:8204200-8212200	Weak transcription	Fetal Kidney	kidney
14	chr4:8204200-8216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:8204600-8218800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:8204800-8222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:8205000-8210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:8205000-8211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:8205000-8219200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:8205200-8212400	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:8205200-8219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:8205800-8212000	Strong transcription	Fetal Stomach	stomach
23	chr4:8206200-8210400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8206400-8214200	Genic enhancers	Fetal Thymus	thymus
25	chr4:8207400-8212200	Strong transcription	Liver	Liver
26	chr4:8207600-8209600	Genic enhancers	Primary B cells from cord blood	blood
27	chr4:8207600-8209800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:8207600-8211800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:8207800-8209600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:8207800-8212600	Weak transcription	A549	lung
31	chr4:8207800-8216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:8208000-8210400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:8208000-8211400	Strong transcription	HUVEC	blood vessel
34	chr4:8208000-8211800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:8208000-8211800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:8208000-8212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8208000-8216200	Weak transcription	NHLF	lung
38	chr4:8208000-8216600	Weak transcription	Right Ventricle	heart
39	chr4:8208000-8216800	Weak transcription	Stomach Mucosa	stomach
40	chr4:8208200-8209600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8208200-8209600	Weak transcription	Pancreas	Pancrea
42	chr4:8208200-8210000	Strong transcription	GM12878-XiMat	blood
43	chr4:8208200-8210600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:8208200-8211000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:8208200-8211200	Weak transcription	Colonic Mucosa	Colon
46	chr4:8208200-8212200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:8208200-8220800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:8208200-8222000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:8208200-8226800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:8208400-8209800	Strong transcription	Thymus	Thymus

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