Variant report

Variant	rs2421942
Chromosome Location	chr10:94287380-94287381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94286303..94289350-chr10:94289651..94292347,3	MCF-7	breast:
2	chr10:94286301..94289329-chr10:94351494..94353935,3	MCF-7	breast:
3	chr10:94286791..94289447-chr10:94291789..94294504,3	K562	blood:

Variant related genes	Relation type
ENSG00000138160	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11187066	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253177	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266443	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875329	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875332	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875344	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875345	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875346	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875347	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275218	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737225	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57299222	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151654	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151656	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151657	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151659	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151667	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151672	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv551924	chr10:94212742-94290484	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv551925	chr10:94224165-94288429	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1802816	chr10:94232247-94294291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94244000-94303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:94250200-94289400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:94250200-94295200	Weak transcription	Pancreas	Pancrea
4	chr10:94250200-94297200	Weak transcription	Brain Germinal Matrix	brain
5	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
6	chr10:94250400-94301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
8	chr10:94252600-94302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:94257600-94289400	Weak transcription	Right Ventricle	heart
10	chr10:94259400-94289000	Weak transcription	NH-A	brain
11	chr10:94260000-94296800	Weak transcription	Esophagus	oesophagus
12	chr10:94262000-94289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:94262000-94297600	Weak transcription	Psoas Muscle	Psoas
14	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:94264200-94295000	Weak transcription	Small Intestine	intestine
16	chr10:94265800-94290400	Weak transcription	Osteobl	bone
17	chr10:94267600-94297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
20	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:94268000-94313800	Weak transcription	NHLF	lung
22	chr10:94268600-94290800	Weak transcription	Fetal Lung	lung
23	chr10:94268600-94295200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:94268600-94300000	Weak transcription	Colonic Mucosa	Colon
25	chr10:94268800-94290000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:94269000-94290200	Weak transcription	Fetal Kidney	kidney
27	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
28	chr10:94269600-94287400	Weak transcription	Fetal Intestine Small	intestine
29	chr10:94269600-94289200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:94269600-94289200	Weak transcription	Fetal Stomach	stomach
31	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:94269800-94290000	Weak transcription	Ovary	ovary
33	chr10:94269800-94295000	Weak transcription	Lung	lung
34	chr10:94270000-94289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:94270200-94289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:94272000-94288800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:94272200-94288600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:94272200-94288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:94272200-94288800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr10:94272200-94289000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr10:94272200-94289000	Weak transcription	NHEK	skin
43	chr10:94272200-94289200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr10:94272200-94289200	Weak transcription	Left Ventricle	heart
45	chr10:94272200-94289400	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:94272200-94289400	Weak transcription	HepG2	liver
47	chr10:94272200-94289600	Weak transcription	Fetal Thymus	thymus
48	chr10:94272200-94289600	Weak transcription	Thymus	Thymus
49	chr10:94272200-94291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:94272200-94298600	Weak transcription	Brain Cingulate Gyrus	brain

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