Variant report

Variant	rs570970117
Chromosome Location	chr8:86376181-86376182
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	chr8:86375317-86376565	HL-60	blood:	n/a	n/a
2	MYC	chr8:86376113-86376497	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:86375385-86376733	HL-60	blood:	n/a	n/a
4	POLR2A	chr8:86375441-86376677	GM18951	blood:	n/a	n/a
5	MAX	chr8:86376045-86376661	ECC-1	luminal epithelium:	n/a	n/a
6	E2F6	chr8:86376069-86376779	H1-hESC	embryonic stem cell:	n/a	chr8:86376255-86376265 chr8:86376696-86376703 chr8:86376696-86376703 chr8:86376520-86376530 chr8:86376190-86376202 chr8:86376692-86376704 chr8:86376696-86376703
7	POLR2A	chr8:86375494-86376625	GM19099	blood:	n/a	n/a
8	POLR2A	chr8:86375490-86376505	GM18526	blood:	n/a	n/a
9	POLR2A	chr8:86375988-86376688	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr8:86375280-86376499	MCF-7	breast:	n/a	chr8:86376156-86376169
11	NR2F2	chr8:86375230-86376875	MCF-7	breast:	n/a	n/a
12	MAX	chr8:86376095-86376663	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:86375472-86376620	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
15	PML	chr8:86375359-86376753	MCF-7	breast:	n/a	n/a
16	POLR2A	chr8:86376180-86376336	A549	lung:	n/a	n/a
17	EGR1	chr8:86376004-86376598	H1-hESC	embryonic stem cell:	n/a	chr8:86376156-86376169
18	ELF1	chr8:86376098-86376440	GM12878	blood:	n/a	chr8:86376257-86376266
19	TAF1	chr8:86375954-86376587	ECC-1	luminal epithelium:	n/a	n/a
20	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:86375771-86376494	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr8:86375808-86376626	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr8:86375417-86376725	MCF-7	breast:	n/a	n/a
24	ZNF143	chr8:86376133-86376563	H1-hESC	embryonic stem cell:	n/a	chr8:86376282-86376300 chr8:86376433-86376443
25	MAX	chr8:86376039-86376624	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF7	chr8:86376081-86376623	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr8:86376072-86376264	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA2	chr8:86376137-86376686	A549	lung:	n/a	n/a
30	TAF1	chr8:86376026-86376544	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr8:86376111-86376633	H1-hESC	embryonic stem cell:	n/a	chr8:86376255-86376265 chr8:86376520-86376530 chr8:86376190-86376202
32	POLR2A	chr8:86375991-86376416	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr8:86376162-86376589	GM12878	blood:	n/a	chr8:86376257-86376266 chr8:86376217-86376231 chr8:86376283-86376294 chr8:86376458-86376469 chr8:86376460-86376469
34	POLR2A	chr8:86375916-86376492	HCT-116	colon:	n/a	n/a
35	TCF7L2	chr8:86375435-86377016	HCT-116	colon:	n/a	n/a
36	ZBTB7A	chr8:86375291-86376725	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr8:86375928-86376642	MCF10A-Er-Src	breast:	n/a	n/a
38	MAX	chr8:86376017-86376669	H1-hESC	embryonic stem cell:	n/a	n/a
39	PAX5	chr8:86376121-86376482	GM12892	blood:	n/a	n/a
40	POLR2A	chr8:86375493-86376694	NB4	blood:	n/a	n/a
41	RAD21	chr8:86375136-86376772	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
42	POLR2A	chr8:86375880-86376397	HCT-116	colon:	n/a	n/a
43	POLR2A	chr8:86376137-86376409	GM12878	blood:	n/a	n/a
44	YY1	chr8:86376094-86376375	ECC-1	luminal epithelium:	n/a	chr8:86376257-86376266 chr8:86376217-86376231 chr8:86376283-86376294
45	TAF1	chr8:86375378-86376481	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr8:86375456-86376574	ProgFib	skin:	n/a	n/a
47	GATA3	chr8:86375264-86377221	MCF-7	breast:	n/a	n/a
48	TBP	chr8:86376055-86376612	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr8:86375287-86377225	MCF-7	breast:	n/a	n/a
50	ELF1	chr8:86375361-86376733	MCF-7	breast:	n/a	chr8:86376583-86376592 chr8:86375817-86375826 chr8:86376509-86376521 chr8:86376257-86376266

No.	Distal block	Cell Line	Cell type
1	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:
2	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:
3	chr8:86373793..86376899-chr8:86998896..87001584,3	MCF-7	breast:
4	chr22:36782277..36784307-chr8:86374266..86376495,2	MCF-7	breast:
5	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
6	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:

Variant related genes	Relation type
CA2	TF binding region
ENSG00000253549	TF binding region
ENSG00000147614	Chromatin interaction
ENSG00000164879	Chromatin interaction
ENSG00000100345	Chromatin interaction
ENSG00000253154	Chromatin interaction
ENSG00000178104	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3361413	chr8:86374200-86377398	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3394177	chr8:86374925-86377473	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3408824	chr8:86375225-86378073	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375200-86376200	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr8:86375200-86376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:86375200-86376400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:86375200-86376600	Active TSS	Colon Smooth Muscle	Colon
5	chr8:86375200-86376600	Active TSS	A549	lung
6	chr8:86375200-86376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:86375200-86376800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:86375200-86377000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:86375200-86377200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:86375200-86377800	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:86375200-86378000	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:86375400-86376200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr8:86375400-86376200	Active TSS	Fetal Brain Female	brain
15	chr8:86375400-86376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:86375400-86376400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:86375400-86376400	Active TSS	Primary hematopoietic stem cells	blood
18	chr8:86375400-86376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:86375400-86376600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:86375400-86376600	Active TSS	HSMM	muscle
21	chr8:86375400-86376600	Active TSS	Osteobl	bone
22	chr8:86375400-86376800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:86375400-86376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:86375400-86376800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:86375400-86376800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:86375400-86376800	Active TSS	Ovary	ovary
27	chr8:86375400-86376800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:86375400-86376800	Active TSS	HepG2	liver
29	chr8:86375400-86376800	Active TSS	NHEK	skin
30	chr8:86375400-86377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:86375400-86377000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:86375400-86377000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:86375400-86377000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:86375400-86377000	Active TSS	Fetal Kidney	kidney
35	chr8:86375400-86377200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:86375400-86377200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:86375400-86377200	Bivalent/Poised TSS	Thymus	Thymus
38	chr8:86375400-86377400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:86375400-86377400	Active TSS	Brain Substantia Nigra	brain
40	chr8:86375400-86377600	Active TSS	Psoas Muscle	Psoas
41	chr8:86375400-86377800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:86375400-86378600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:86375400-86378800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:86375400-86380000	Active TSS	Brain Anterior Caudate	brain
45	chr8:86375400-86380000	Active TSS	Brain Cingulate Gyrus	brain
46	chr8:86375400-86380000	Active TSS	Brain Hippocampus Middle	brain
47	chr8:86375400-86380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:86375400-86380600	Active TSS	Colonic Mucosa	Colon
49	chr8:86375400-86381000	Active TSS	Brain Angular Gyrus	brain
50	chr8:86375600-86376200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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