Variant report

Variant	rs269251
Chromosome Location	chr7:140335055-140335056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140330889..140333777-chr7:140334738..140338747,3	K562	blood:
2	chr7:140319770..140321765-chr7:140333430..140335076,2	K562	blood:
3	chr7:140283049..140285377-chr7:140334649..140337248,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10227869	1.00[EUR][1000 genomes]
rs10277628	1.00[ASN][1000 genomes]
rs10280493	1.00[ASN][1000 genomes]
rs11973083	1.00[EUR][1000 genomes]
rs11977004	1.00[ASN][1000 genomes]
rs11982424	1.00[EUR][1000 genomes]
rs11983453	1.00[EUR][1000 genomes]
rs2363830	1.00[ASN][1000 genomes]
rs269250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269252	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269253	1.00[EUR][1000 genomes]
rs269256	0.87[AMR][1000 genomes]
rs269257	0.87[AMR][1000 genomes]
rs269260	1.00[EUR][1000 genomes]
rs55816014	1.00[EUR][1000 genomes]
rs56711326	1.00[EUR][1000 genomes]
rs57565761	1.00[EUR][1000 genomes]
rs57960333	1.00[EUR][1000 genomes]
rs58118476	1.00[EUR][1000 genomes]
rs59489402	1.00[EUR][1000 genomes]
rs60480710	1.00[EUR][1000 genomes]
rs60901124	1.00[EUR][1000 genomes]
rs61333130	1.00[EUR][1000 genomes]
rs61737088	1.00[EUR][1000 genomes]
rs61737090	1.00[EUR][1000 genomes]
rs6464833	1.00[ASN][1000 genomes]
rs6948434	1.00[ASN][1000 genomes]
rs6948774	1.00[ASN][1000 genomes]
rs6952059	1.00[EUR][1000 genomes]
rs6952999	1.00[ASN][1000 genomes]
rs6957365	1.00[EUR][1000 genomes]
rs6964971	1.00[EUR][1000 genomes]
rs6964982	1.00[EUR][1000 genomes]
rs6972562	1.00[EUR][1000 genomes]
rs6975258	1.00[ASN][1000 genomes]
rs6979290	1.00[EUR][1000 genomes]
rs6980049	1.00[ASN][1000 genomes]
rs73491595	1.00[EUR][1000 genomes]
rs73502154	1.00[EUR][1000 genomes]
rs73736617	1.00[EUR][1000 genomes]
rs73736622	1.00[EUR][1000 genomes]
rs73736632	1.00[EUR][1000 genomes]
rs73736633	1.00[EUR][1000 genomes]
rs7795017	1.00[EUR][1000 genomes]
rs7804236	1.00[EUR][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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140326600-140335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:140326600-140335400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:140326600-140335400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:140326600-140335800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:140326600-140337400	Weak transcription	Gastric	stomach
6	chr7:140326600-140339600	Weak transcription	Esophagus	oesophagus
7	chr7:140326800-140335200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:140326800-140335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:140326800-140335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:140327000-140335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:140327000-140335200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:140327000-140335200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:140327000-140335400	Weak transcription	Brain Anterior Caudate	brain
14	chr7:140327000-140337000	Weak transcription	Fetal Kidney	kidney
15	chr7:140327000-140338000	Weak transcription	NH-A	brain
16	chr7:140327800-140335600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:140327800-140338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:140328200-140335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:140328200-140335200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:140328200-140335200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:140328200-140335200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:140328200-140335200	Weak transcription	Right Ventricle	heart
23	chr7:140328200-140335400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:140328200-140335400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:140328800-140337600	Weak transcription	Liver	Liver
26	chr7:140329400-140337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:140329600-140335200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:140329600-140337600	Weak transcription	Fetal Brain Female	brain
29	chr7:140331200-140335200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:140331800-140335200	Weak transcription	Right Atrium	heart
31	chr7:140332000-140335200	Weak transcription	Fetal Heart	heart
32	chr7:140332000-140335400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:140332200-140335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:140332200-140335200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:140332200-140335200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:140332200-140335400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:140332400-140335200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:140332400-140335200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:140332400-140335400	Weak transcription	NHLF	lung
40	chr7:140332400-140337200	Weak transcription	NHDF-Ad	bronchial
41	chr7:140332600-140335200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:140332800-140335200	Weak transcription	Placenta	Placenta
43	chr7:140333200-140337400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr7:140333800-140335400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:140334400-140335800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:140334400-140338200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:140334400-140339000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140334800-140335200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:140334800-140335200	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:140334800-140335400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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