Variant report

Variant	rs7797753
Chromosome Location	chr7:140440044-140440045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140434733..140440913-chr7:140443989..140447709,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17133505	0.84[AFR][1000 genomes]
rs17161709	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs17161736	0.85[YRI][hapmap]
rs2075046	0.96[YRI][hapmap]
rs2159474	0.96[YRI][hapmap]
rs55727905	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306956	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56940988	0.86[AFR][1000 genomes]
rs57038951	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57146841	0.87[AMR][1000 genomes]
rs58233801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58554741	0.94[AFR][1000 genomes]
rs60088791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60144069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61142678	0.98[AFR][1000 genomes]
rs61421775	0.86[AFR][1000 genomes]
rs66565115	0.83[AFR][1000 genomes]
rs6977964	0.81[YRI][hapmap]
rs6979327	0.85[YRI][hapmap]
rs73491657	0.87[AMR][1000 genomes]
rs73491839	0.81[AFR][1000 genomes]
rs73491853	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494523	0.87[AFR][1000 genomes]
rs73494540	1.00[AMR][1000 genomes]
rs73736589	0.81[AFR][1000 genomes]
rs7778495	0.87[AMR][1000 genomes]
rs7793476	0.83[AFR][1000 genomes]
rs7810726	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1015269	chr7:140412464-140458821	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398000-140466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
4	chr7:140398600-140459400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
6	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
7	chr7:140399600-140443800	Weak transcription	Fetal Heart	heart
8	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:140404400-140452400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
12	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
15	chr7:140407000-140454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:140407000-140466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:140407200-140445400	Weak transcription	Spleen	Spleen
18	chr7:140407200-140449800	Weak transcription	A549	lung
19	chr7:140407200-140450000	Weak transcription	Pancreas	Pancrea
20	chr7:140407200-140454400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:140407200-140459200	Weak transcription	Fetal Lung	lung
22	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:140415000-140454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:140415200-140466400	Weak transcription	Aorta	Aorta
26	chr7:140415200-140472000	Weak transcription	Lung	lung
27	chr7:140415200-140506600	Weak transcription	Gastric	stomach
28	chr7:140420000-140443600	Weak transcription	GM12878-XiMat	blood
29	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
30	chr7:140423800-140453000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:140424000-140444000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:140424200-140468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:140425400-140468400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:140426200-140447600	Weak transcription	K562	blood
36	chr7:140426200-140448800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:140426200-140467200	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:140426600-140455800	Weak transcription	NH-A	brain
40	chr7:140428000-140444000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
42	chr7:140428400-140445000	Weak transcription	NHEK	skin
43	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
44	chr7:140428800-140453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:140429000-140443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:140429000-140445600	Weak transcription	HSMM	muscle
47	chr7:140429200-140459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:140430400-140440200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:140430800-140444800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus

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