Variant report

Variant	rs3757381
Chromosome Location	chr7:138200117-138200118
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138144273..138147062-chr7:138199670..138202711,4	K562	blood:
2	chr7:138145066..138146985-chr7:138197776..138200513,2	MCF-7	breast:
3	chr7:138194787..138197500-chr7:138199534..138201806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10155993	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10215281	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10227693	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10232771	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10247380	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10248731	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258706	0.85[ASN][1000 genomes]
rs1030961	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1077772	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11976614	0.89[ASN][1000 genomes]
rs12112459	0.92[ASN][1000 genomes]
rs12666310	0.85[ASN][1000 genomes]
rs1363053	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs1421604	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1544733	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1673203	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1673204	0.83[ASN][1000 genomes]
rs1673205	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1673206	0.84[ASN][1000 genomes]
rs17364560	0.86[ASN][1000 genomes]
rs17461551	0.93[ASN][1000 genomes]
rs1813003	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1874326	0.94[CEU][hapmap]
rs2353354	0.85[ASN][1000 genomes]
rs2353355	0.87[ASN][1000 genomes]
rs3778705	0.85[CEU][hapmap];0.88[ASN][1000 genomes]
rs3807155	0.90[ASN][1000 genomes]
rs3807156	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807157	0.83[ASN][1000 genomes]
rs3816192	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55723768	0.89[ASN][1000 genomes]
rs56092804	0.89[ASN][1000 genomes]
rs57407834	0.88[ASN][1000 genomes]
rs58562866	0.92[ASN][1000 genomes]
rs62485263	0.86[ASN][1000 genomes]
rs62485264	0.85[ASN][1000 genomes]
rs62487615	0.85[ASN][1000 genomes]
rs62487616	0.87[ASN][1000 genomes]
rs62487619	0.89[ASN][1000 genomes]
rs6467776	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467778	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467780	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467782	0.94[CEU][hapmap];0.90[ASN][1000 genomes]
rs6467783	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6944764	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6948094	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6954285	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6959574	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963539	0.86[ASN][1000 genomes]
rs6970175	0.89[ASN][1000 genomes]
rs6974877	0.89[ASN][1000 genomes]
rs6978524	0.82[ASN][1000 genomes]
rs728092	0.88[ASN][1000 genomes]
rs749546	0.84[ASN][1000 genomes]
rs7795981	0.89[ASN][1000 genomes]
rs7808392	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888609	0.84[ASN][1000 genomes]
rs9791462	0.86[ASN][1000 genomes]
rs985299	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138175200-138201200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:138176600-138203600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
4	chr7:138178600-138212200	Weak transcription	NHLF	lung
5	chr7:138180200-138204200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:138183000-138203600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:138184800-138204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:138187400-138203800	Weak transcription	Psoas Muscle	Psoas
10	chr7:138187600-138202600	Weak transcription	Hela-S3	cervix
11	chr7:138187600-138203600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:138188000-138204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:138188200-138203800	Weak transcription	Colonic Mucosa	Colon
14	chr7:138188400-138201800	Weak transcription	NH-A	brain
15	chr7:138188400-138209800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr7:138188600-138203600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:138188800-138210400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:138188800-138210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:138189000-138203200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:138190200-138212200	Weak transcription	HMEC	breast
21	chr7:138191000-138201200	Weak transcription	Small Intestine	intestine
22	chr7:138191600-138201600	Weak transcription	Esophagus	oesophagus
23	chr7:138191600-138202000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:138191600-138203800	Weak transcription	HSMM	muscle
25	chr7:138192000-138201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
27	chr7:138192200-138207400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:138193600-138203200	Weak transcription	HUVEC	blood vessel
29	chr7:138193600-138204000	Weak transcription	Brain Angular Gyrus	brain
30	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
31	chr7:138194600-138200200	Genic enhancers	HepG2	liver
32	chr7:138194600-138200600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:138194800-138203800	Weak transcription	Right Ventricle	heart
34	chr7:138195000-138203400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:138195000-138203800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:138195200-138205600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:138196000-138203400	Weak transcription	HSMMtube	muscle
39	chr7:138196200-138200600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr7:138196400-138200200	Enhancers	Liver	Liver
41	chr7:138196400-138202800	Strong transcription	Primary T cells from cord blood	blood
42	chr7:138196800-138209400	Strong transcription	Dnd41	blood
43	chr7:138197000-138204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:138197200-138200600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:138197400-138200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:138197400-138201200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:138197400-138201200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:138197400-138201200	Weak transcription	Fetal Kidney	kidney
50	chr7:138197400-138201200	Weak transcription	Rectal Mucosa Donor 31	rectum

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