Variant report

Variant	rs4886556
Chromosome Location	chr15:78368457-78368458
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	CTCF	chr15:78368380-78368530	SAEC	small airway:	n/a	n/a
2	TBP	chr15:78368113-78368480	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr15:78368024-78368728	MCF-7	breast:	n/a	n/a
4	TAF1	chr15:78368058-78368568	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr15:78368092-78368655	H1-hESC	embryonic stem cell:	n/a	chr15:78368370-78368381
6	JUND	chr15:78368147-78368535	H1-hESC	embryonic stem cell:	n/a	chr15:78368158-78368168
7	MAFK	chr15:78367787-78368847	IMR90	lung:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
8	TCF12	chr15:78368233-78368549	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr15:78368149-78368618	MCF-7	breast:	n/a	n/a
10	JUND	chr15:78368167-78368506	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr15:78367685-78368615	SK-N-SH	brain:	n/a	n/a
12	KAP1	chr15:78367970-78368740	U2OS	brain:	n/a	n/a
13	POLR2A	chr15:78368007-78368489	ProgFib	skin:	n/a	n/a
14	CTCF	chr15:78368340-78368490	GM12874	blood:	n/a	n/a
15	RFX5	chr15:78368153-78368553	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr15:78368135-78368497	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr15:78367708-78368505	SK-N-SH	brain:	n/a	n/a
18	MAFF	chr15:78367953-78368828	HepG2	liver:	n/a	chr15:78368157-78368175 chr15:78368156-78368170
19	SIN3AK20	chr15:78367801-78368805	MCF-7	breast:	n/a	n/a
20	SP1	chr15:78368064-78368678	H1-hESC	embryonic stem cell:	n/a	chr15:78368370-78368381
21	CTCF	chr15:78368340-78368630	AG04450	lung:	n/a	n/a
22	MAFK	chr15:78367737-78369024	GM12878	blood:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
23	ELF1	chr15:78368215-78368489	HepG2	liver:	n/a	n/a
24	BACH1	chr15:78367961-78368485	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr15:78368223-78368752	HepG2	liver:	n/a	n/a
26	SMC3	chr15:78368246-78368843	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:78367712-78370170	IMR90	lung:	n/a	n/a
28	WRNIP1	chr15:78368454-78368768	GM12878	blood:	n/a	n/a
29	KAP1	chr15:78367875-78368759	HEK293	kidney:	n/a	n/a
30	RAD21	chr15:78367832-78368794	IMR90	lung:	n/a	n/a
31	GTF2F1	chr15:78368324-78368463	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr15:78368400-78368550	HRPEpiC	eye:	n/a	n/a
33	MAFF	chr15:78367970-78368546	K562	blood:	n/a	chr15:78368157-78368175 chr15:78368156-78368170
34	MAZ	chr15:78368221-78368536	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr15:78368145-78368512	SK-N-SH	brain:	n/a	n/a
36	ELF1	chr15:78368108-78368555	HepG2	liver:	n/a	n/a
37	SIN3A	chr15:78368095-78368615	H1-hESC	embryonic stem cell:	n/a	chr15:78368531-78368540 chr15:78368195-78368204 chr15:78368426-78368435
38	MAFK	chr15:78367940-78368765	Hela-S3	cervix:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
39	RAD21	chr15:78368059-78368836	H1-hESC	embryonic stem cell:	n/a	n/a
40	RFX5	chr15:78368290-78368485	HepG2	liver:	n/a	n/a
41	ELF1	chr15:78368105-78368900	MCF-7	breast:	n/a	n/a
42	ZNF263	chr15:78367875-78369900	HEK293-T-REx	kidney:	n/a	chr15:78369466-78369475 chr15:78368347-78368368 chr15:78369547-78369556
43	JUND	chr15:78367626-78368651	SK-N-SH	brain:	n/a	chr15:78368158-78368168
44	TCF12	chr15:78367684-78368717	SK-N-SH	brain:	n/a	n/a
45	STAT3	chr15:78368352-78368516	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78360126..78361739-chr15:78367541..78369302,2	K562	blood:
2	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
3	chr15:78357782..78360184-chr15:78367009..78369493,4	MCF-7	breast:
4	chr15:78362119..78363904-chr15:78366538..78368474,2	MCF-7	breast:
5	chr15:78365861..78368679-chr6:26247536..26249940,2	MCF-7	breast:
6	chr15:78303690..78306677-chr15:78365888..78368992,3	MCF-7	breast:
7	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:

Variant related genes	Relation type
SH2D7	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1053506	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10775215	1.00[ASN][1000 genomes]
rs11072725	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072726	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11633329	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633569	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854102	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595595	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900731	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901492	1.00[ASN][1000 genomes]
rs12913206	1.00[ASN][1000 genomes]
rs12915731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12915847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916320	1.00[ASN][1000 genomes]
rs1348256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477813	0.82[AFR][1000 genomes]
rs1837911	1.00[ASN][1000 genomes]
rs1837912	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015951	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044100	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680277	1.00[ASN][1000 genomes]
rs3972617	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243072	1.00[ASN][1000 genomes]
rs4243073	0.86[AFR][1000 genomes]
rs4316722	1.00[ASN][1000 genomes]
rs4411474	1.00[ASN][1000 genomes]
rs4886551	1.00[ASN][1000 genomes]
rs4886552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886985	1.00[ASN][1000 genomes]
rs4886986	1.00[ASN][1000 genomes]
rs4886987	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886990	1.00[ASN][1000 genomes]
rs4886991	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886993	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887003	1.00[ASN][1000 genomes]
rs4887004	1.00[ASN][1000 genomes]
rs4997420	0.84[AFR][1000 genomes]
rs61732053	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163997	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7169381	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7169882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170101	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175192	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175975	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894302	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788640	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920180	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78361600-78369200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:78362800-78369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:78366800-78369600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr15:78367000-78369000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:78367600-78368600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:78367600-78369000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:78367600-78369000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr15:78367600-78370400	Active TSS	Ovary	ovary
9	chr15:78367800-78368800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr15:78367800-78368800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:78367800-78368800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr15:78367800-78368800	Flanking Active TSS	HSMM	muscle
13	chr15:78367800-78368800	Flanking Active TSS	NHLF	lung
14	chr15:78367800-78369000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:78367800-78369000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:78367800-78369000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr15:78367800-78369000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr15:78367800-78369000	Flanking Active TSS	Liver	Liver
19	chr15:78367800-78369000	Flanking Active TSS	Thymus	Thymus
20	chr15:78367800-78369000	Flanking Active TSS	HepG2	liver
21	chr15:78367800-78369000	Flanking Active TSS	NHEK	skin
22	chr15:78367800-78369200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:78367800-78369200	Flanking Active TSS	Placenta	Placenta
24	chr15:78367800-78369200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr15:78367800-78369400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:78367800-78369400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr15:78367800-78369400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:78367800-78369400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr15:78367800-78369400	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr15:78367800-78369400	Flanking Active TSS	NH-A	brain
31	chr15:78367800-78369400	Flanking Active TSS	Osteobl	bone
32	chr15:78367800-78369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:78367800-78369600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78367800-78369600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
37	chr15:78367800-78369600	Flanking Active TSS	Hela-S3	cervix
38	chr15:78367800-78369600	Flanking Active TSS	HUVEC	blood vessel
39	chr15:78367800-78369600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr15:78367800-78370400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:78367800-78370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr15:78367800-78370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:78368000-78368600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:78368000-78368600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr15:78368000-78368600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:78368000-78368600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:78368000-78368600	Enhancers	Esophagus	oesophagus
48	chr15:78368000-78368600	Enhancers	Spleen	Spleen
49	chr15:78368000-78368600	Flanking Active TSS	HSMMtube	muscle
50	chr15:78368000-78368800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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