Variant report

Variant	rs17158132
Chromosome Location	chr15:83679706-83679707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:441)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:83679320-83679877	K562	blood:	n/a	n/a
2	NR2F2	chr15:83679368-83680879	K562	blood:	n/a	n/a
3	CTCF	chr15:83679660-83679810	GM12873	blood:	n/a	n/a
4	TBP	chr15:83679359-83679965	GM12878	blood:	n/a	n/a
5	MYBL2	chr15:83679525-83680093	HepG2	liver:	n/a	n/a
6	CTCF	chr15:83679680-83679830	HEEpiC	esophagus:	n/a	n/a
7	CHD2	chr15:83679626-83679814	K562	blood:	n/a	n/a
8	CTCF	chr15:83679613-83679884	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr15:83679700-83679850	HCFaa	heart:	n/a	n/a
10	RCOR1	chr15:83679472-83680039	GM12878	blood:	n/a	n/a
11	GABPA	chr15:83679631-83680897	A549	lung:	n/a	chr15:83680388-83680402 chr15:83680391-83680402 chr15:83680393-83680402 chr15:83680391-83680405
12	MAX	chr15:83679626-83680949	MCF-7	breast:	n/a	n/a
13	NR2F2	chr15:83679561-83680118	K562	blood:	n/a	n/a
14	RAD21	chr15:83679591-83680006	HepG2	liver:	n/a	n/a
15	YY1	chr15:83679558-83680673	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr15:83678960-83682105	GM12891	blood:	n/a	n/a
17	CTCF	chr15:83679627-83679924	A549	lung:	n/a	n/a
18	CTCF	chr15:83679700-83679850	BE2_C	brain:	n/a	n/a
19	BACH1	chr15:83679642-83679740	K562	blood:	n/a	n/a
20	CTCF	chr15:83679700-83679850	GM12874	blood:	n/a	n/a
21	POLR2A	chr15:83679681-83680799	ProgFib	skin:	n/a	n/a
22	POLR2A	chr15:83679662-83680819	NB4	blood:	n/a	n/a
23	CTCF	chr15:83679680-83679830	HAc	cerebellar:	n/a	n/a
24	MAX	chr15:83679584-83680980	GM12878	blood:	n/a	n/a
25	ZNF143	chr15:83679590-83680657	H1-hESC	embryonic stem cell:	n/a	chr15:83680423-83680433
26	RELA	chr15:83679597-83681036	GM18951	blood:	n/a	n/a
27	POLR2A	chr15:83679488-83681032	HUVEC	blood vessel:	n/a	n/a
28	SIN3AK20	chr15:83679488-83680870	A549	lung:	n/a	n/a
29	RAD21	chr15:83679419-83680715	IMR90	lung:	n/a	n/a
30	POLR2A	chr15:83679627-83679950	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr15:83679627-83680777	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:83679531-83680011	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr15:83679685-83680870	GM12878	blood:	n/a	n/a
34	TAF1	chr15:83679581-83680809	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr15:83679670-83680946	GM12891	blood:	n/a	n/a
36	SMC3	chr15:83679550-83680906	GM12878	blood:	n/a	n/a
37	CTCF	chr15:83679514-83680031	HCT-116	colon:	n/a	n/a
38	MYC	chr15:83679606-83680733	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:83679525-83681003	PFSK-1	brain:	n/a	n/a
40	CTCF	chr15:83679502-83680761	GM12878	blood:	n/a	n/a
41	CTCF	chr15:83679680-83679830	GM12875	blood:	n/a	n/a
42	SP1	chr15:83679488-83680886	A549	lung:	n/a	n/a
43	MAFF	chr15:83679676-83679919	K562	blood:	n/a	n/a
44	CTCF	chr15:83679700-83679850	AG09319	gingival:	n/a	n/a
45	UBTF	chr15:83679635-83680786	K562	blood:	n/a	n/a
46	YY1	chr15:83679660-83680773	K562	blood:	n/a	n/a
47	CTCF	chr15:83679680-83679830	Caco-2	colon:	n/a	n/a
48	MAX	chr15:83679512-83680954	ECC-1	luminal epithelium:	n/a	n/a
49	CHD2	chr15:83679616-83680696	Hela-S3	cervix:	n/a	n/a
50	RAD21	chr15:83679603-83679958	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83678535..83684480-chr15:83731660..83738533,12	MCF-7	breast:
2	chr15:83516928..83520058-chr15:83678480..83682741,4	K562	blood:
3	chr15:83679004..83681789-chr15:83733343..83738150,8	MCF-7	breast:
4	chr15:83348285..83351278-chr15:83678934..83682211,3	MCF-7	breast:
5	chr15:83679195..83681271-chr15:83795082..83797349,2	K562	blood:
6	chr15:83418143..83420234-chr15:83679510..83682009,2	K562	blood:
7	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
8	chr15:83679523..83682277-chr15:83776010..83777597,2	K562	blood:
9	chr15:83417632..83419477-chr15:83677725..83680505,2	MCF-7	breast:
10	chr15:83679205..83686226-chr15:83733349..83739878,12	K562	blood:
11	chr15:83654223..83656996-chr15:83678905..83681492,4	MCF-7	breast:
12	chr15:83620495..83623262-chr15:83678706..83680302,2	MCF-7	breast:
13	chr15:83679489..83680165-chr15:83832055..83832883,2	K562	blood:
14	chr15:83679499..83683217-chr15:83687466..83692124,6	K562	blood:
15	chr15:83678350..83680791-chr15:83692946..83695679,3	MCF-7	breast:
16	chr15:83678946..83682301-chr15:83733959..83737732,7	K562	blood:
17	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
18	chr15:83679265..83679818-chr15:84227865..84228776,2	K562	blood:
19	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:
20	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
21	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249214	TF binding region
ENSG00000260608	TF binding region
C15orf40	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000260351	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000136404	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000259767	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1002881	0.90[GIH][hapmap]
rs1588546	1.00[GIH][hapmap]
rs17158194	0.81[GIH][hapmap]
rs2306428	0.88[GIH][hapmap]
rs59572346	0.93[EUR][1000 genomes]
rs72755929	1.00[AMR][1000 genomes]
rs72755942	0.84[AMR][1000 genomes]
rs72758307	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17158132	KIAA1971	cis	multi-tissue	Pritchard
rs17158132	WHAMM	cis	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83679000-83679800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr15:83679000-83679800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr15:83679000-83679800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:83679000-83679800	Flanking Active TSS	Brain Angular Gyrus	brain
5	chr15:83679000-83679800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:83679000-83679800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:83679000-83679800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr15:83679000-83679800	Enhancers	Small Intestine	intestine
9	chr15:83679000-83680000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr15:83679000-83680600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:83679000-83680800	Active TSS	A549	lung
12	chr15:83679200-83679800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:83679200-83679800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:83679200-83679800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr15:83679200-83679800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:83679200-83679800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr15:83679200-83679800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:83679200-83679800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr15:83679200-83679800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:83679200-83679800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr15:83679200-83679800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:83679200-83679800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr15:83679200-83679800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr15:83679200-83679800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr15:83679200-83679800	Flanking Active TSS	Fetal Brain Male	brain
26	chr15:83679200-83679800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr15:83679200-83679800	Flanking Active TSS	Fetal Lung	lung
28	chr15:83679200-83679800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr15:83679200-83679800	Flanking Active TSS	Fetal Stomach	stomach
30	chr15:83679200-83679800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:83679200-83679800	Flanking Active TSS	Hela-S3	cervix
32	chr15:83679200-83679800	Flanking Active TSS	NH-A	brain
33	chr15:83679200-83679800	Flanking Active TSS	NHEK	skin
34	chr15:83679200-83679800	Flanking Active TSS	Osteobl	bone
35	chr15:83679200-83680000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:83679200-83680000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:83679200-83680000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr15:83679200-83680000	Flanking Active TSS	Liver	Liver
39	chr15:83679200-83680000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr15:83679200-83680600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr15:83679200-83680600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr15:83679200-83680600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr15:83679200-83681400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr15:83679200-83681400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:83679400-83679800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:83679400-83679800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:83679400-83679800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr15:83679400-83679800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr15:83679400-83679800	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr15:83679400-83679800	Flanking Active TSS	Brain Germinal Matrix	brain

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