Variant report

Variant	rs1868585
Chromosome Location	chr2:11382829-11382830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11365381..11369172-chr2:11380510..11384403,4	K562	blood:
2	chr2:11374624..11376647-chr2:11381201..11383592,2	MCF-7	breast:
3	chr2:11381157..11383383-chr2:11504997..11507708,2	MCF-7	breast:
4	chr2:11382499..11384208-chr2:11387400..11389311,2	K562	blood:
5	chr2:11380163..11381910-chr2:11382008..11384131,2	MCF-7	breast:
6	chr2:11375000..11377998-chr2:11380925..11383500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction
ENSG00000230952	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10167277	0.81[CEU][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[ASN][1000 genomes]
rs10169868	0.94[ASN][1000 genomes]
rs10180914	0.86[ASN][1000 genomes]
rs10181567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189756	0.82[JPT][hapmap]
rs10192483	0.87[CHB][hapmap]
rs10204503	0.91[ASN][1000 genomes]
rs10495582	0.87[CHB][hapmap]
rs10754958	0.87[CHB][hapmap]
rs10929727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929728	1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[ASN][1000 genomes]
rs1129976	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676201	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11680818	0.87[CHB][hapmap]
rs11683010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11891012	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11891877	0.95[ASN][1000 genomes]
rs12469980	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12470004	0.87[CHB][hapmap]
rs12475086	0.87[CHB][hapmap]
rs12476188	0.84[ASN][1000 genomes]
rs12478098	0.87[CHB][hapmap]
rs12618325	0.94[ASN][1000 genomes]
rs12622447	1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs12692436	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12996399	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs13017010	0.94[ASN][1000 genomes]
rs13018466	0.86[CHB][hapmap]
rs13022598	0.87[CHB][hapmap]
rs13393192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13397757	0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs13404430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13423864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13424069	0.87[CHB][hapmap]
rs1515219	0.87[CHB][hapmap]
rs1546597	0.87[CHB][hapmap]
rs1546598	0.87[CHB][hapmap]
rs16857307	0.80[YRI][hapmap]
rs17366643	0.87[CHB][hapmap]
rs17366657	0.86[CHB][hapmap]
rs17463896	0.87[CHB][hapmap]
rs1901010	0.87[CHB][hapmap]
rs2011812	0.87[CHB][hapmap]
rs2056103	0.87[CHB][hapmap]
rs2122383	0.87[CHB][hapmap]
rs2271621	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2290156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3206843	0.92[ASN][1000 genomes]
rs34554628	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35844125	0.80[ASN][1000 genomes]
rs36072395	0.97[ASN][1000 genomes]
rs3732103	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3771106	0.87[CHB][hapmap]
rs4477886	0.82[CHB][hapmap]
rs4669700	0.90[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4669702	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669708	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs56243142	0.94[ASN][1000 genomes]
rs58263533	0.97[ASN][1000 genomes]
rs6432187	0.87[CEU][hapmap]
rs6705170	0.91[JPT][hapmap]
rs6716447	0.82[CHB][hapmap]
rs6716817	0.82[CHB][hapmap]
rs6728627	0.87[CHB][hapmap]
rs6736194	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6739310	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6743710	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6753921	0.87[CHB][hapmap]
rs726843	0.87[CHB][hapmap]
rs7589152	0.87[CHB][hapmap]
rs7598032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7600696	0.99[ASN][1000 genomes]
rs8996	0.87[CHB][hapmap]
rs978906	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv2607	chr2:11381341-11409932	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
3	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
4	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
7	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
8	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:11361000-11383800	Weak transcription	Fetal Kidney	kidney
12	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
14	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:11361000-11400200	Weak transcription	Gastric	stomach
16	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
18	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:11364000-11387000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:11364400-11387600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:11365400-11387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:11365600-11383400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:11366000-11391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:11366600-11390800	Weak transcription	NHLF	lung
30	chr2:11367600-11387000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:11367600-11387000	Weak transcription	Placenta	Placenta
32	chr2:11367600-11388200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:11367800-11387000	Weak transcription	Dnd41	blood
34	chr2:11368200-11387000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:11368400-11394400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:11369600-11388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:11370400-11394200	Weak transcription	Fetal Lung	lung
38	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:11373400-11387200	Weak transcription	Fetal Intestine Small	intestine
41	chr2:11375400-11390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:11375600-11387200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:11376000-11387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:11376200-11387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:11376800-11387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:11376800-11387000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:11376800-11387600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:11376800-11394200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:11376800-11395000	Weak transcription	Fetal Heart	heart

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