Variant report

Variant	rs12225195
Chromosome Location	chr11:17194819-17194820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17190320..17193251-chr11:17194290..17196394,2	K562	blood:
2	chr11:17194253..17196723-chr11:17227181..17229874,2	MCF-7	breast:
3	chr11:17193774..17196751-chr11:17204153..17207102,2	K562	blood:

Variant related genes	Relation type
ENSG00000011405	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10430892	1.00[EUR][1000 genomes]
rs10741723	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10832730	0.86[ASN][1000 genomes]
rs11024142	0.86[ASN][1000 genomes]
rs11024145	0.86[ASN][1000 genomes]
rs11024146	0.87[ASN][1000 genomes]
rs11024147	0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs11024150	0.89[ASN][1000 genomes]
rs11024152	0.89[ASN][1000 genomes]
rs11024153	0.89[ASN][1000 genomes]
rs11024185	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024186	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024190	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024197	1.00[EUR][1000 genomes]
rs11024199	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024201	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024226	1.00[EUR][1000 genomes]
rs11024243	1.00[EUR][1000 genomes]
rs11024245	1.00[EUR][1000 genomes]
rs11024246	1.00[EUR][1000 genomes]
rs12576590	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17847728	0.88[ASN][1000 genomes]
rs2302511	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61555995	1.00[EUR][1000 genomes]
rs6416174	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486349	0.86[ASN][1000 genomes]
rs6486350	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486353	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67771121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123825	0.86[ASN][1000 genomes]
rs7125085	0.89[AFR][1000 genomes]
rs7125829	1.00[YRI][hapmap]
rs7127204	0.95[ASN][1000 genomes]
rs72632986	0.87[ASN][1000 genomes]
rs72632987	0.86[ASN][1000 genomes]
rs72632988	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72632989	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72632990	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73433254	0.81[AFR][1000 genomes]
rs7928860	1.00[YRI][hapmap]
rs7929047	0.92[ASN][1000 genomes]
rs7934596	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941165	0.88[ASN][1000 genomes]
rs7945756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
3	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
6	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
8	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
9	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
14	chr11:17185200-17195400	Weak transcription	Gastric	stomach
15	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
17	chr11:17187000-17195000	Weak transcription	Fetal Heart	heart
18	chr11:17187000-17198000	Weak transcription	HMEC	breast
19	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
21	chr11:17187200-17195400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:17187200-17207200	Weak transcription	K562	blood
23	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
24	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
28	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
29	chr11:17189200-17197600	Weak transcription	Fetal Intestine Small	intestine
30	chr11:17189400-17203200	Weak transcription	Fetal Stomach	stomach
31	chr11:17190400-17197600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:17190800-17195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:17191000-17199000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:17191000-17203800	Weak transcription	Liver	Liver
35	chr11:17191000-17204000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:17191000-17207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:17191200-17198000	Weak transcription	Left Ventricle	heart
41	chr11:17191200-17201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:17191200-17202600	Weak transcription	Fetal Intestine Large	intestine
43	chr11:17191200-17204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:17191200-17204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:17191200-17204800	Weak transcription	Primary T cells from cord blood	blood
46	chr11:17191200-17208600	Weak transcription	GM12878-XiMat	blood
47	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood

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