Variant report

Variant	rs370073788
Chromosome Location	chr8:86376366-86376367
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	CTCF	chr8:86376339-86376539	GM19240	blood:	n/a	n/a
4	POLR2A	chr8:86375385-86376733	HL-60	blood:	n/a	n/a
5	POLR2A	chr8:86375441-86376677	GM18951	blood:	n/a	n/a
6	MAX	chr8:86376045-86376661	ECC-1	luminal epithelium:	n/a	n/a
7	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
8	POLR2A	chr8:86375494-86376625	GM19099	blood:	n/a	n/a
9	POLR2A	chr8:86375490-86376505	GM18526	blood:	n/a	n/a
10	POLR2A	chr8:86375988-86376688	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:86376340-86376490	HMEC	breast:	n/a	n/a
12	EGR1	chr8:86375280-86376499	MCF-7	breast:	n/a	chr8:86376156-86376169
13	NR2F2	chr8:86375230-86376875	MCF-7	breast:	n/a	n/a
14	MAX	chr8:86376095-86376663	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:86375472-86376620	MCF-7	breast:	n/a	n/a
16	TCF3	chr8:86376268-86376683	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
18	CTCF	chr8:86376281-86376607	GM19239	blood:	n/a	n/a
19	MXI1	chr8:86376298-86376578	H1-hESC	embryonic stem cell:	n/a	n/a
20	PML	chr8:86375359-86376753	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:86376320-86376470	SK-N-SH_RA	brain:	n/a	n/a
22	EGR1	chr8:86376004-86376598	H1-hESC	embryonic stem cell:	n/a	chr8:86376156-86376169
23	CTCF	chr8:86376360-86376510	GM12874	blood:	n/a	n/a
24	ELF1	chr8:86376098-86376440	GM12878	blood:	n/a	chr8:86376257-86376266
25	TAF1	chr8:86375954-86376587	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr8:86376340-86376490	GM12864	blood:	n/a	n/a
27	TEAD4	chr8:86376224-86376464	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
29	RAD21	chr8:86376306-86376657	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:86375771-86376494	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr8:86375808-86376626	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:86375417-86376725	MCF-7	breast:	n/a	n/a
33	GATA1	chr8:86376273-86376625	PBDE	blood:	n/a	n/a
34	ZNF143	chr8:86376133-86376563	H1-hESC	embryonic stem cell:	n/a	chr8:86376282-86376300 chr8:86376433-86376443
35	MAX	chr8:86376039-86376624	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:86376340-86376490	GM12868	blood:	n/a	n/a
37	TAF7	chr8:86376081-86376623	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr8:86376307-86376601	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr8:86376300-86376450	GM12866	blood:	n/a	n/a
40	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
41	CHD1	chr8:86376351-86376654	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOXA1	chr8:86376337-86376578	HepG2	liver:	n/a	n/a
43	FOXA2	chr8:86376137-86376686	A549	lung:	n/a	n/a
44	TAF1	chr8:86376026-86376544	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:86376280-86376594	MCF-7	breast:	n/a	n/a
46	E2F6	chr8:86376111-86376633	H1-hESC	embryonic stem cell:	n/a	chr8:86376255-86376265 chr8:86376520-86376530 chr8:86376190-86376202
47	POLR2A	chr8:86376195-86376371	A549	lung:	n/a	n/a
48	YY1	chr8:86376226-86376740	H1-hESC	embryonic stem cell:	n/a	chr8:86376257-86376266 chr8:86376283-86376294 chr8:86376458-86376469 chr8:86376460-86376469
49	POLR2A	chr8:86375991-86376416	ECC-1	luminal epithelium:	n/a	n/a
50	YY1	chr8:86376162-86376589	GM12878	blood:	n/a	chr8:86376257-86376266 chr8:86376217-86376231 chr8:86376283-86376294 chr8:86376458-86376469 chr8:86376460-86376469

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
ENSG00000253549	TF binding region
ENSG00000100345	Chromatin interaction
ENSG00000253154	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000147614	Chromatin interaction
ENSG00000164879	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	chr8:86375200-86376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:86375200-86376400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:86375200-86376600	Active TSS	Colon Smooth Muscle	Colon
4	chr8:86375200-86376600	Active TSS	A549	lung
5	chr8:86375200-86376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:86375200-86376800	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr8:86375200-86377000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:86375200-86377200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:86375200-86377800	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:86375200-86378000	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:86375400-86376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:86375400-86376400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:86375400-86376400	Active TSS	Primary hematopoietic stem cells	blood
15	chr8:86375400-86376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:86375400-86376600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:86375400-86376600	Active TSS	HSMM	muscle
18	chr8:86375400-86376600	Active TSS	Osteobl	bone
19	chr8:86375400-86376800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:86375400-86376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:86375400-86376800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:86375400-86376800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:86375400-86376800	Active TSS	Ovary	ovary
24	chr8:86375400-86376800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:86375400-86376800	Active TSS	HepG2	liver
26	chr8:86375400-86376800	Active TSS	NHEK	skin
27	chr8:86375400-86377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:86375400-86377000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:86375400-86377000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:86375400-86377000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:86375400-86377000	Active TSS	Fetal Kidney	kidney
32	chr8:86375400-86377200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:86375400-86377200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:86375400-86377200	Bivalent/Poised TSS	Thymus	Thymus
35	chr8:86375400-86377400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:86375400-86377400	Active TSS	Brain Substantia Nigra	brain
37	chr8:86375400-86377600	Active TSS	Psoas Muscle	Psoas
38	chr8:86375400-86377800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:86375400-86378600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:86375400-86378800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr8:86375400-86380000	Active TSS	Brain Anterior Caudate	brain
42	chr8:86375400-86380000	Active TSS	Brain Cingulate Gyrus	brain
43	chr8:86375400-86380000	Active TSS	Brain Hippocampus Middle	brain
44	chr8:86375400-86380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:86375400-86380600	Active TSS	Colonic Mucosa	Colon
46	chr8:86375400-86381000	Active TSS	Brain Angular Gyrus	brain
47	chr8:86375600-86376400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:86375600-86376400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:86375600-86376400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr8:86375600-86376400	Weak transcription	Stomach Mucosa	stomach

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