Variant report

Variant	rs370349501
Chromosome Location	chr15:82335490-82335491
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	RAD21	chr15:82335409-82335613	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr15:82335387-82336161	IMR90	lung:	n/a	n/a
3	SIN3A	chr15:82335328-82340684	H1-hESC	embryonic stem cell:	n/a	chr15:82339224-82339235 chr15:82339725-82339736 chr15:82337260-82337271 chr15:82337592-82337605 chr15:82339681-82339694 chr15:82337106-82337119 chr15:82340224-82340233 chr15:82337030-82337043 chr15:82339354-82339363 chr15:82339845-82339856
4	MXI1	chr15:82334810-82340509	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr15:82335274-82336149	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:82335400-82335550	BJ	skin:	n/a	n/a
7	E2F6	chr15:82335310-82337155	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr15:82335390-82336123	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr15:82335480-82335630	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:82335420-82335570	HRE	kidney:	n/a	n/a
11	CHD2	chr15:82335479-82335863	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr15:82335425-82335595	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr15:82335397-82336311	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr15:82335408-82336184	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr15:82335336-82336316	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr15:82335420-82335570	NHDF-neo	bronchial:	n/a	n/a
17	E2F6	chr15:82335321-82336126	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr15:82335470-82335614	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:82335405-82335975	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr15:82335420-82335570	HAc	cerebellar:	n/a	n/a
21	RAD21	chr15:82335324-82335703	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr15:82335460-82335610	SK-N-SH_RA	brain:	n/a	n/a
23	SMC3	chr15:82335239-82340296	SK-N-SH	brain:	n/a	chr15:82339359-82339369 chr15:82338241-82338251
24	MAX	chr15:82335355-82336160	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr15:82335440-82335590	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82095888..82097859-chr15:82332803..82335499,2	K562	blood:
2	chr15:82333925..82335787-chr15:82348964..82351774,2	MCF-7	breast:
3	chr15:82330594..82336594-chr15:82336813..82340577,9	K562	blood:
4	chr15:82333605..82336369-chr15:82346217..82348896,2	MCF-7	breast:
5	chr15:82299760..82303058-chr15:82332264..82335755,3	K562	blood:

Variant related genes	Relation type
ENSG00000222521	TF binding region
ENSG00000259622	Chromatin interaction
ENSG00000183496	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv827415	chr15:82333348-82340769	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3344827	chr15:82334647-82340995	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82332200-82335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:82333400-82335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:82333400-82335600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:82333400-82336000	Weak transcription	Osteobl	bone
5	chr15:82333600-82335600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:82333600-82335600	Weak transcription	Brain Anterior Caudate	brain
7	chr15:82333600-82336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:82333600-82336400	Weak transcription	Right Atrium	heart
9	chr15:82333600-82336600	Weak transcription	Psoas Muscle	Psoas
10	chr15:82333600-82336600	Weak transcription	A549	lung
11	chr15:82334000-82336000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:82334200-82336400	Weak transcription	NHDF-Ad	bronchial
13	chr15:82334200-82336600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
14	chr15:82334400-82335800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:82334400-82336000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:82334800-82337000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:82334800-82337400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr15:82335000-82335800	Active TSS	Brain Cingulate Gyrus	brain
19	chr15:82335000-82335800	Genic enhancers	Fetal Lung	lung
20	chr15:82335000-82336000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:82335000-82336200	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr15:82335000-82336400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:82335000-82336400	Active TSS	Brain Angular Gyrus	brain
24	chr15:82335000-82336600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:82335000-82336600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
26	chr15:82335000-82336600	Enhancers	Fetal Heart	heart
27	chr15:82335000-82340600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:82335200-82335600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:82335200-82336000	Strong transcription	K562	blood
30	chr15:82335200-82336200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr15:82335200-82336200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:82335200-82336200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:82335200-82336200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr15:82335200-82336400	Genic enhancers	Thymus	Thymus
35	chr15:82335200-82336600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:82335200-82336800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:82335200-82336800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr15:82335200-82336800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:82335200-82336800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
40	chr15:82335200-82337000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr15:82335200-82337000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
42	chr15:82335200-82338000	Active TSS	Fetal Brain Male	brain
43	chr15:82335400-82335600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:82335400-82335600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:82335400-82335600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:82335400-82335600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr15:82335400-82335600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr15:82335400-82335600	Flanking Active TSS	Ovary	ovary
49	chr15:82335400-82335600	Genic enhancers	NHLF	lung
50	chr15:82335400-82335800	Flanking Active TSS	Colon Smooth Muscle	Colon

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