Variant report

Variant	rs7141624
Chromosome Location	chr14:31056480-31056481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31055032..31057154-chr14:31089293..31092128,2	MCF-7	breast:
2	chr14:31053757..31056719-chr14:31064798..31067024,2	K562	blood:
3	chr14:31055576..31058014-chr14:31058559..31061042,2	MCF-7	breast:
4	chr14:31055022..31056735-chr14:31062270..31063794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10131166	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10141944	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10146357	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10147257	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10149966	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1113946	0.88[AMR][1000 genomes]
rs11156637	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1123860	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11622076	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623154	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11626600	0.80[AMR][1000 genomes]
rs11627421	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11628700	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11846071	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11846293	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11846408	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11851205	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586678	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12881161	0.80[AMR][1000 genomes]
rs12882048	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12882931	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs142983	0.84[AMR][1000 genomes]
rs17096941	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17097023	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2057284	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2070340	0.82[ASN][1000 genomes]
rs2273520	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273521	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273522	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs229244	0.80[ASN][1000 genomes]
rs28567474	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34935871	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35069045	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35389182	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3825740	0.88[AMR][1000 genomes]
rs4430662	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs447853	0.80[AMR][1000 genomes]
rs61976741	0.81[EUR][1000 genomes]
rs6571356	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571357	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7141333	0.82[ASN][1000 genomes]
rs7149113	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7493549	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs761956	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8008094	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009427	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8013017	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018993	0.85[ASN][1000 genomes]
rs8019637	0.89[EUR][1000 genomes];0.88[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
4	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
9	chr14:31033800-31070000	Weak transcription	Lung	lung
10	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
11	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:31040600-31057400	Weak transcription	Hela-S3	cervix
13	chr14:31042400-31056600	Weak transcription	NHEK	skin
14	chr14:31043000-31056600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:31043000-31079600	Weak transcription	Gastric	stomach
16	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
17	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
18	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
20	chr14:31047000-31058800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:31047000-31058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:31047000-31059000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:31047000-31059000	Weak transcription	NH-A	brain
24	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
26	chr14:31047200-31056600	Weak transcription	K562	blood
27	chr14:31047200-31059000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:31047200-31063600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:31048600-31060800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:31049000-31060400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
33	chr14:31050400-31059000	Weak transcription	Placenta	Placenta
34	chr14:31050600-31057400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:31050800-31067800	Weak transcription	Ovary	ovary
36	chr14:31051000-31059800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:31051000-31060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:31051200-31057200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:31051800-31064600	Strong transcription	HSMM	muscle
40	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
41	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
42	chr14:31052400-31056600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:31052400-31060400	Weak transcription	NHLF	lung
44	chr14:31053600-31056600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:31053600-31056600	Weak transcription	HMEC	breast
46	chr14:31053600-31058600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:31053800-31057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:31053800-31059200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:31053800-31059400	Weak transcription	Fetal Muscle Leg	muscle

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