Variant report

Variant	rs12794405
Chromosome Location	chr11:73000144-73000145
allele	G/T
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	chr11:73000120-73000270	HA-sp	spinal cord:	n/a	n/a
2	RELA	chr11:72999316-73000910	GM18951	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
3	CTCF	chr11:73000100-73000250	GM12874	blood:	n/a	n/a
4	FOSL2	chr11:72999815-73000227	A549	lung:	n/a	chr11:73000068-73000076 chr11:73000067-73000077 chr11:73000069-73000080
5	CTCF	chr11:73000000-73000150	HAc	cerebellar:	n/a	n/a
6	RAD21	chr11:72999646-73001171	SK-N-SH	brain:	n/a	chr11:73000044-73000058 chr11:72999667-72999680 chr11:73000686-73000705
7	EP300	chr11:72999640-73000970	A549	lung:	n/a	chr11:73000292-73000306 chr11:73000552-73000566
8	CTCF	chr11:73000126-73000442	K562	blood:	n/a	n/a
9	TCF12	chr11:72999607-73001038	A549	lung:	n/a	chr11:73000051-73000058
10	CTCF	chr11:73000060-73000210	GM12873	blood:	n/a	n/a
11	USF2	chr11:72999780-73000272	GM12878	blood:	n/a	n/a
12	ZNF143	chr11:72999756-73000169	Hela-S3	cervix:	n/a	chr11:72999971-72999989
13	RAD21	chr11:72999796-73001009	A549	lung:	n/a	chr11:73000044-73000058 chr11:73000686-73000705
14	CTCF	chr11:73000102-73000397	A549	lung:	n/a	n/a
15	KAP1	chr11:73000039-73000886	HEK293	kidney:	n/a	n/a
16	CTCF	chr11:72999902-73001152	SK-N-SH	brain:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
17	REST	chr11:72999737-73000359	PFSK-1	brain:	n/a	n/a
18	SMC3	chr11:73000040-73000898	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:73000120-73000270	AG04449	skin:	n/a	n/a
20	SP1	chr11:72999621-73000938	A549	lung:	n/a	chr11:73000324-73000336 chr11:73000326-73000335 chr11:73000325-73000334 chr11:73000324-73000336
21	NR2F2	chr11:72999714-73000333	K562	blood:	n/a	n/a
22	CTCF	chr11:73000140-73000290	HEK293	kidney:	n/a	n/a
23	FOS	chr11:72999925-73000204	MCF10A-Er-Src	breast:	n/a	chr11:73000068-73000076 chr11:73000067-73000077 chr11:73000066-73000077 chr11:73000069-73000080
24	CTCF	chr11:73000120-73000395	K562	blood:	n/a	n/a
25	SP1	chr11:72999611-73000870	A549	lung:	n/a	chr11:73000324-73000336 chr11:73000326-73000335 chr11:73000325-73000334 chr11:73000324-73000336
26	SPI1	chr11:73000090-73000933	GM12878	blood:	n/a	chr11:73000553-73000562 chr11:73000557-73000566
27	YY1	chr11:73000119-73000299	K562	blood:	n/a	n/a
28	POLR2A	chr11:72999931-73000769	HepG2	liver:	n/a	n/a
29	ATF3	chr11:73000033-73000905	A549	lung:	n/a	n/a
30	FOS	chr11:72999690-73000797	HUVEC	blood vessel:	n/a	chr11:73000068-73000076 chr11:73000067-73000077 chr11:73000066-73000077 chr11:73000069-73000080
31	CHD1	chr11:72999902-73001197	IMR90	lung:	n/a	n/a
32	CTCF	chr11:73000138-73000320	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:73000113-73001081	HCT-116	colon:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
34	ELF1	chr11:72999734-73000275	A549	lung:	n/a	n/a
35	RELA	chr11:72999171-73000956	GM12891	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
36	TCF12	chr11:72999707-73000725	A549	lung:	n/a	chr11:73000051-73000058
37	MAZ	chr11:72999941-73000862	K562	blood:	n/a	n/a
38	RAD21	chr11:73000073-73000896	GM12878	blood:	n/a	chr11:73000686-73000705
39	RELA	chr11:72999790-73000872	GM15510	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
40	MAX	chr11:72999694-73000932	A549	lung:	n/a	n/a
41	ZNF143	chr11:72999704-73000871	K562	blood:	n/a	chr11:72999971-72999989
42	ZBTB7A	chr11:72999739-73000359	K562	blood:	n/a	n/a
43	MAX	chr11:72999626-73001013	A549	lung:	n/a	n/a
44	CTCF	chr11:73000015-73001039	K562	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
45	RAD21	chr11:73000112-73000425	HepG2	liver:	n/a	n/a
46	MAZ	chr11:72999731-73001101	IMR90	lung:	n/a	n/a
47	RCOR1	chr11:72999799-73000215	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr11:72999568-73000839	K562	blood:	n/a	n/a
49	MAZ	chr11:72999787-73000809	HepG2	liver:	n/a	n/a
50	CTCF	chr11:73000140-73000290	GM12865	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72463586..72465161-chr11:72998103..73000277,2	MCF-7	breast:
2	chr11:72999826..73001894-chr11:73086497..73088526,2	K562	blood:
3	chr11:72994379..72997208-chr11:72997669..73000273,2	K562	blood:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10898913	0.95[ASN][1000 genomes]
rs10898914	0.95[ASN][1000 genomes]
rs10898915	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[ASN][1000 genomes]
rs11235707	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	1.00[ASN][1000 genomes]
rs12363628	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790447	1.00[ASN][1000 genomes]
rs12790863	1.00[ASN][1000 genomes]
rs12801084	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[ASN][1000 genomes]
rs67897720	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[ASN][1000 genomes]
rs7106903	1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[ASN][1000 genomes]
rs7930891	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72996400-73001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
3	chr11:72997200-73001000	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:72997600-73000200	Enhancers	K562	blood
5	chr11:72997800-73000200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:72997800-73000800	Enhancers	Lung	lung
7	chr11:72998000-73000200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:72998200-73000200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:72998200-73000200	Enhancers	Fetal Muscle Leg	muscle
10	chr11:72998200-73001000	Enhancers	Fetal Heart	heart
11	chr11:72998200-73001000	Enhancers	Left Ventricle	heart
12	chr11:72998400-73000200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:72998400-73000200	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:72998400-73000200	Enhancers	Right Atrium	heart
15	chr11:72998400-73001200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:72998600-73000800	Enhancers	Fetal Thymus	thymus
18	chr11:72998600-73000800	Enhancers	Right Ventricle	heart
19	chr11:72998600-73001000	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:72998600-73001600	Enhancers	Primary B cells from cord blood	blood
21	chr11:72998600-73002000	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:72998800-73000600	Enhancers	HSMMtube	muscle
23	chr11:72998800-73000800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:72998800-73001000	Enhancers	Stomach Mucosa	stomach
25	chr11:72998800-73001200	Enhancers	HUVEC	blood vessel
26	chr11:72999000-73000200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:72999000-73000200	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:72999000-73000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:72999000-73000400	Weak transcription	Brain Germinal Matrix	brain
30	chr11:72999000-73000400	Weak transcription	Pancreas	Pancrea
31	chr11:72999000-73000600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:72999000-73004600	Enhancers	Spleen	Spleen
33	chr11:72999200-73000400	Enhancers	Primary T cells from cord blood	blood
34	chr11:72999200-73000800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:72999200-73002600	Enhancers	Placenta	Placenta
36	chr11:72999400-73000400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:72999400-73000400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr11:72999400-73000400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:72999400-73000600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:72999400-73000600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:72999400-73000800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:72999400-73001000	Enhancers	HMEC	breast
43	chr11:72999400-73001000	Enhancers	NH-A	brain
44	chr11:72999600-73000200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:72999600-73000200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:72999600-73000200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:72999600-73000200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:72999600-73000200	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:72999600-73000200	Enhancers	Hela-S3	cervix
50	chr11:72999600-73000200	Enhancers	HSMM	muscle

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