Variant report

Variant	rs269259
Chromosome Location	chr7:140332477-140332478
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140326135..140327836-chr7:140331660..140333245,2	K562	blood:
2	chr7:140330889..140333777-chr7:140334738..140338747,3	K562	blood:
3	chr7:140326135..140328395-chr7:140330259..140333160,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs269256	0.92[AFR][1000 genomes]
rs269257	0.92[AFR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140326400-140334800	Weak transcription	Spleen	Spleen
2	chr7:140326600-140335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:140326600-140335400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:140326600-140335400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:140326600-140335800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:140326600-140337400	Weak transcription	Gastric	stomach
7	chr7:140326600-140339600	Weak transcription	Esophagus	oesophagus
8	chr7:140326800-140334800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:140326800-140335200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:140326800-140335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:140326800-140335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:140327000-140335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:140327000-140335200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:140327000-140335200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:140327000-140335400	Weak transcription	Brain Anterior Caudate	brain
16	chr7:140327000-140337000	Weak transcription	Fetal Kidney	kidney
17	chr7:140327000-140338000	Weak transcription	NH-A	brain
18	chr7:140327800-140335600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:140327800-140338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:140328200-140334400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:140328200-140334800	Weak transcription	Ovary	ovary
22	chr7:140328200-140335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:140328200-140335200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:140328200-140335200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:140328200-140335200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:140328200-140335200	Weak transcription	Right Ventricle	heart
27	chr7:140328200-140335400	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:140328200-140335400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:140328800-140337600	Weak transcription	Liver	Liver
30	chr7:140329400-140337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:140329600-140334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:140329600-140335200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:140329600-140337600	Weak transcription	Fetal Brain Female	brain
34	chr7:140330000-140334400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:140330600-140332600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr7:140331000-140332600	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:140331200-140332600	Enhancers	Fetal Muscle Leg	muscle
38	chr7:140331200-140335200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:140331800-140332800	Enhancers	Placenta	Placenta
40	chr7:140331800-140332800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr7:140331800-140333000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:140331800-140333200	Weak transcription	Psoas Muscle	Psoas
43	chr7:140331800-140333400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:140331800-140335200	Weak transcription	Right Atrium	heart
45	chr7:140332000-140335200	Weak transcription	Fetal Heart	heart
46	chr7:140332000-140335400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:140332200-140335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:140332200-140335200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:140332200-140335200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:140332200-140335400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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