Variant report

Variant	rs8037395
Chromosome Location	chr15:44579854-44579855
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	RFX5	chr15:44579564-44581533	Hela-S3	cervix:	n/a	chr15:44580177-44580194
2	GATA1	chr15:44579787-44581036	PBDE	blood:	n/a	n/a
3	POLR2A	chr15:44579780-44581812	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr15:44579585-44582082	H1-neurons	neurons:	n/a	chr15:44581112-44581125
5	RAD21	chr15:44579820-44581647	IMR90	lung:	n/a	chr15:44581157-44581170 chr15:44580864-44580878
6	POLR2A	chr15:44579801-44579929	MCF10A-Er-Src	breast:	n/a	n/a
7	BCLAF1	chr15:44579725-44581201	GM12878	blood:	n/a	chr15:44581038-44581051
8	BHLHE40	chr15:44579845-44581534	K562	blood:	n/a	chr15:44581179-44581195
9	RELA	chr15:44579846-44581108	GM18505	blood:	n/a	n/a
10	HCFC1	chr15:44579303-44582224	Hela-S3	cervix:	n/a	n/a
11	TCF12	chr15:44579784-44581320	ECC-1	luminal epithelium:	n/a	chr15:44580161-44580168
12	TEAD4	chr15:44579763-44581156	K562	blood:	n/a	n/a
13	IRF1	chr15:44579800-44581164	K562	blood:	n/a	chr15:44581041-44581055 chr15:44580309-44580319 chr15:44580310-44580326 chr15:44580873-44580887 chr15:44581067-44581081
14	PML	chr15:44579733-44581326	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:44579817-44581375	U87	brain:	n/a	n/a
16	ZC3H11A	chr15:44579807-44580102	K562	blood:	n/a	n/a
17	POLR2A	chr15:44579696-44581389	U87	brain:	n/a	n/a
18	POLR2A	chr15:44579842-44581249	SK-N-SH	brain:	n/a	n/a
19	CHD1	chr15:44579594-44582324	IMR90	lung:	n/a	chr15:44580808-44580817 chr15:44581043-44581053
20	MAX	chr15:44579827-44580592	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr15:44579843-44581180	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44579788..44582534-chr15:44587472..44590995,5	K562	blood:
2	chr15:44566884..44569182-chr15:44579159..44580802,2	K562	blood:
3	chr15:44578896..44580532-chr15:44718300..44720139,2	K562	blood:
4	chr15:44575170..44577372-chr15:44579582..44581514,2	K562	blood:
5	chr15:44579746..44580523-chr17:2310254..2310863,2	Hela-S3	cervix:
6	chr15:44579706..44582433-chr15:44718054..44720169,2	MCF-7	breast:
7	chr15:44574254..44576946-chr15:44577393..44580315,2	MCF-7	breast:

Variant related genes	Relation type
CASC4	TF binding region
ENSG00000203575	Chromatin interaction
ENSG00000259595	Chromatin interaction
ENSG00000203576	Chromatin interaction
ENSG00000137770	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10152710	0.88[EUR][1000 genomes]
rs1021800	0.88[GIH][hapmap];0.88[EUR][1000 genomes]
rs10467977	0.82[EUR][1000 genomes]
rs11070426	0.88[GIH][hapmap]
rs12591178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12591581	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12591811	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12592995	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12593125	0.82[EUR][1000 genomes]
rs12593325	0.88[EUR][1000 genomes]
rs12593686	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12593943	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12594110	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs12594139	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12594167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12594621	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12594645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594746	0.82[EUR][1000 genomes]
rs12595484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17551416	0.88[EUR][1000 genomes]
rs2055061	0.82[EUR][1000 genomes]
rs2288341	0.88[EUR][1000 genomes]
rs2412883	0.82[EUR][1000 genomes]
rs2433350	0.82[EUR][1000 genomes]
rs2555353	0.82[EUR][1000 genomes]
rs2556566	0.82[EUR][1000 genomes]
rs28508235	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28561508	0.82[EUR][1000 genomes]
rs2899113	0.88[EUR][1000 genomes]
rs35555389	0.82[EUR][1000 genomes]
rs3784565	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3784567	0.82[EUR][1000 genomes]
rs3809471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3816928	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3986142	0.82[EUR][1000 genomes]
rs3986143	0.82[EUR][1000 genomes]
rs4146283	0.87[MKK][hapmap]
rs4415978	0.82[EUR][1000 genomes]
rs4477677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4577056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4924746	0.84[ASN][1000 genomes]
rs57270586	0.82[EUR][1000 genomes]
rs58956090	0.82[EUR][1000 genomes]
rs59230801	0.82[EUR][1000 genomes]
rs59997416	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60003667	0.82[EUR][1000 genomes]
rs60399672	0.82[EUR][1000 genomes]
rs60558145	0.96[AFR][1000 genomes]
rs61185650	0.82[EUR][1000 genomes]
rs61234123	0.82[EUR][1000 genomes]
rs61258861	0.82[EUR][1000 genomes]
rs61278540	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61329003	0.82[EUR][1000 genomes]
rs61501839	0.82[EUR][1000 genomes]
rs6493103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs7162802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7163529	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7164709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7166278	0.82[EUR][1000 genomes]
rs7166945	0.82[EUR][1000 genomes]
rs7167752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7169333	0.82[EUR][1000 genomes]
rs7170248	0.82[EUR][1000 genomes]
rs7172106	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7175200	0.88[EUR][1000 genomes]
rs7178318	0.82[EUR][1000 genomes]
rs7179894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181772	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7183109	0.83[EUR][1000 genomes]
rs8023453	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8024623	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8024805	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8025727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8025876	0.82[EUR][1000 genomes]
rs8025955	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8026945	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8027036	0.82[EUR][1000 genomes]
rs8028509	0.82[EUR][1000 genomes]
rs8028907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs883943	0.82[EUR][1000 genomes]
rs9672237	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9673085	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9806725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44577600-44580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:44579200-44580000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:44579200-44580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:44579200-44580000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:44579200-44580000	Flanking Active TSS	Hela-S3	cervix
6	chr15:44579200-44580200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:44579200-44581400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr15:44579200-44581600	Active TSS	Duodenum Mucosa	Duodenum
9	chr15:44579200-44581800	Active TSS	Brain Substantia Nigra	brain
10	chr15:44579200-44581800	Active TSS	Fetal Brain Female	brain
11	chr15:44579200-44582000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:44579200-44582000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:44579200-44582200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:44579200-44582600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:44579200-44582600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:44579200-44582600	Active TSS	Brain Angular Gyrus	brain
17	chr15:44579200-44582600	Active TSS	HMEC	breast
18	chr15:44579400-44580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:44579400-44580000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr15:44579400-44580000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr15:44579400-44580000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr15:44579400-44580000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr15:44579400-44580000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:44579400-44580000	Flanking Active TSS	HUVEC	blood vessel
25	chr15:44579400-44580000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:44579400-44580200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr15:44579400-44580400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr15:44579400-44580400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr15:44579400-44581400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr15:44579400-44581600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr15:44579400-44581600	Active TSS	Fetal Muscle Leg	muscle
32	chr15:44579400-44582000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr15:44579400-44582400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:44579400-44582400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:44579400-44582400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:44579400-44582600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr15:44579400-44582600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:44579400-44582600	Active TSS	Brain Cingulate Gyrus	brain
39	chr15:44579400-44582800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:44579400-44582800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:44579400-44582800	Active TSS	Right Atrium	heart
42	chr15:44579400-44582800	Active TSS	NHDF-Ad	bronchial
43	chr15:44579400-44583000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:44579400-44583000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:44579400-44583000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr15:44579400-44583600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:44579400-44584000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:44579600-44580000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:44579600-44580000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr15:44579600-44580000	Flanking Active TSS	Liver	Liver

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