Variant report

Variant	rs28541336
Chromosome Location	chr7:140429926-140429927
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	chr7:140429621..140431191-chr7:140448921..140450687,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10225852	1.00[AMR][1000 genomes]
rs10227524	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227617	1.00[AMR][1000 genomes]
rs10229313	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233173	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233557	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236260	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236694	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241940	0.84[ASW][hapmap];0.89[LWK][hapmap];0.88[YRI][hapmap]
rs10245178	0.88[YRI][hapmap]
rs10247601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247753	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10251357	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254605	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	0.84[ASW][hapmap];0.85[LWK][hapmap];0.88[YRI][hapmap]
rs10268332	0.82[ASW][hapmap];0.89[YRI][hapmap]
rs10271135	0.87[YRI][hapmap]
rs10279071	0.88[YRI][hapmap]
rs10280112	1.00[AMR][1000 genomes]
rs10280479	0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441168	1.00[AMR][1000 genomes]
rs11979399	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984018	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446531	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28481617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505512	0.84[ASW][hapmap];0.89[LWK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs28612236	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718470	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71645987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:114 , 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	chr7:140398400-140432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:140398600-140459400	Weak transcription	Brain Germinal Matrix	brain
6	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
7	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
8	chr7:140399600-140443800	Weak transcription	Fetal Heart	heart
9	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:140404400-140452400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
13	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
16	chr7:140407000-140454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:140407000-140466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:140407200-140433600	Weak transcription	Adipose Nuclei	Adipose
19	chr7:140407200-140437600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:140407200-140438000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:140407200-140438200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:140407200-140438200	Weak transcription	Ovary	ovary
23	chr7:140407200-140438200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:140407200-140438200	Weak transcription	HepG2	liver
25	chr7:140407200-140438600	Weak transcription	Left Ventricle	heart
26	chr7:140407200-140438800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:140407200-140445400	Weak transcription	Spleen	Spleen
28	chr7:140407200-140449800	Weak transcription	A549	lung
29	chr7:140407200-140450000	Weak transcription	Pancreas	Pancrea
30	chr7:140407200-140454400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:140407200-140459200	Weak transcription	Fetal Lung	lung
32	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:140415000-140437800	Weak transcription	Fetal Brain Female	brain
34	chr7:140415000-140454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:140415200-140436600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:140415200-140437600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:140415200-140438400	Weak transcription	Thymus	Thymus
39	chr7:140415200-140466400	Weak transcription	Aorta	Aorta
40	chr7:140415200-140472000	Weak transcription	Lung	lung
41	chr7:140415200-140506600	Weak transcription	Gastric	stomach
42	chr7:140415600-140433800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:140415600-140437000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:140415800-140436600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:140420000-140443600	Weak transcription	GM12878-XiMat	blood
46	chr7:140420200-140430800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:140420400-140437200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:140420800-140437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:140421400-140432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain

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