Variant report

Variant	rs12417094
Chromosome Location	chr11:120039407-120039408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:120039390-120040670	SK-N-SH	brain:	n/a	chr11:120040178-120040191 chr11:120039979-120039992 chr11:120039977-120039995 chr11:120040175-120040193
2	E2F6	chr11:120039404-120040167	H1-hESC	embryonic stem cell:	n/a	chr11:120039977-120039986 chr11:120039878-120039893
3	CTCF	chr11:120039400-120039550	AG09319	gingival:	n/a	n/a
4	SMC3	chr11:120039332-120040518	SK-N-SH	brain:	n/a	chr11:120040177-120040191 chr11:120039979-120039993
5	RAD21	chr11:120039363-120040485	SK-N-SH	brain:	n/a	chr11:120040179-120040192 chr11:120039975-120039994 chr11:120040176-120040195 chr11:120040181-120040191 chr11:120039979-120039993 chr11:120040181-120040193
6	POLR2A	chr11:120039346-120039452	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:120039380-120039530	BE2_C	brain:	n/a	n/a
8	CTCF	chr11:120039360-120039510	HRE	kidney:	n/a	n/a
9	E2F6	chr11:120039305-120040408	H1-hESC	embryonic stem cell:	n/a	chr11:120039977-120039986 chr11:120039878-120039893

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120039366-120039416	Jurkat	blood:	n/a
2	chr11:120039366-120039416	GM19239	blood:	n/a
3	chr11:120039366-120039416	T-47D	breast:	n/a
4	chr11:120039366-120039416	HNPCEpiC	eye:	n/a
5	chr11:120039366-120039416	ECC-1	luminal epithelium:	n/a
6	chr11:120039366-120039416	HCM	heart:	n/a
7	chr11:120039366-120039416	SAEC	small airway:	n/a
8	chr11:120039366-120039416	HRPEpiC	eye:	n/a
9	chr11:120039366-120039416	MCF10A-Er-Src	breast:	n/a
10	chr11:120039366-120039416	PFSK-1	brain:	n/a
11	chr11:120039366-120039416	PrEC	prostate:	n/a
12	chr11:120039366-120039416	NHBE	bronchial:	n/a
13	chr11:120039366-120039416	HMEC	breast:	n/a
14	chr11:120039366-120039416	AG04449	skin:	fetal
15	chr11:120039366-120039416	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:120039366-120039416	Hepatocyte	liver:	n/a
17	chr11:120039366-120039416	HAEpiC	amniotic membrane:	n/a
18	chr11:120039366-120039416	RPTEC	kidney:	n/a
19	chr11:120039366-120039416	ProgFib	skin:	n/a
20	chr11:120039366-120039416	AG10803	skin:	n/a
21	chr11:120039366-120039416	AG09309	skin:	n/a
22	chr11:120039366-120039416	HIPEpiC	eye:	n/a
23	chr11:120039366-120039416	NHDF-neo	bronchial:	n/a
24	chr11:120039366-120039416	A549	lung:	n/a
25	chr11:120039366-120039416	IMR90	lung:	fetal
26	chr11:120039366-120039416	NB4	blood:	n/a
27	chr11:120039366-120039416	SK-N-SH	brain:	n/a
28	chr11:120039366-120039416	HEEpiC	esophagus:	n/a
29	chr11:120039366-120039416	GM12891	blood:	n/a
30	chr11:120039366-120039416	GM12878	blood:	n/a
31	chr11:120039366-120039416	H1-hESC	embryonic stem cell:	embryo
32	chr11:120039366-120039416	HCF	heart:	n/a
33	chr11:120039366-120039416	K562	blood:	n/a
34	chr11:120039366-120039416	HL-60	blood:	n/a
35	chr11:120039366-120039416	SK-N-MC	brain:	n/a
36	chr11:120039366-120039416	BJ	skin:	n/a
37	chr11:120039366-120039416	HUVEC	blood vessel:	n/a
38	chr11:120039366-120039416	NT2-D1	testis:	n/a
39	chr11:120039366-120039416	AoSMC	blood vessel:	n/a
40	chr11:120039366-120039416	PANC-1	pancreas:	n/a
41	chr11:120039366-120039416	AG09319	gingival:	n/a
42	chr11:120039366-120039416	CMK	blood:	n/a
43	chr11:120039366-120039416	BE2_C	brain:	n/a
44	chr11:120039366-120039416	GM12892	blood:	n/a
45	chr11:120039366-120039416	Hela-S3	cervix:	n/a
46	chr11:120039366-120039416	GM06990	blood:	n/a
47	chr11:120039366-120039416	AG04450	lung:	fetal
48	chr11:120039366-120039416	NH-A	brain:	n/a
49	chr11:120039366-120039416	LNCaP	prostate:	n/a
50	chr11:120039366-120039416	MCF-7	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
2	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
3	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
4	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
5	chr11:119990371..119993698-chr11:120037887..120041016,6	MCF-7	breast:
6	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176984	TF binding region
ENSG00000176984	CpG island
ENSG00000137699	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10790369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892545	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217701	0.89[AMR][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217707	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217712	1.00[ASN][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217745	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217748	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12224041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12291620	0.94[AMR][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12419830	0.89[AMR][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12421218	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12422179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740728	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740729	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs679074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575945	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120038800-120039600	Enhancers	Gastric	stomach
2	chr11:120039000-120039600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
3	chr11:120039000-120039600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr11:120039000-120039600	Enhancers	Lung	lung
5	chr11:120039000-120039600	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr11:120039200-120039600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:120039200-120039600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:120039200-120039600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr11:120039200-120039600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr11:120039200-120039600	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:120039200-120039600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr11:120039200-120039800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:120039200-120039800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:120039200-120039800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
15	chr11:120039200-120040400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:120039200-120040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:120039200-120040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:120039200-120040800	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr11:120039200-120040800	Enhancers	Spleen	Spleen
22	chr11:120039200-120041000	Bivalent Enhancer	Fetal Heart	heart
23	chr11:120039200-120041200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:120039400-120039600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:120039400-120039600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr11:120039400-120039600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:120039400-120039600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
30	chr11:120039400-120039600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr11:120039400-120039600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr11:120039400-120039600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:120039400-120039600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:120039400-120039600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:120039400-120039600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:120039400-120039600	Enhancers	Liver	Liver
38	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
41	chr11:120039400-120039600	Flanking Active TSS	Esophagus	oesophagus
42	chr11:120039400-120039600	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr11:120039400-120039600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:120039400-120039600	Flanking Active TSS	Right Atrium	heart
45	chr11:120039400-120039600	Bivalent/Poised TSS	HSMM	muscle
46	chr11:120039400-120039600	Bivalent/Poised TSS	K562	blood
47	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
48	chr11:120039400-120039600	Flanking Active TSS	NHLF	lung
49	chr11:120039400-120039600	Flanking Bivalent TSS/Enh	Osteobl	bone
50	chr11:120039400-120039800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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