Variant report

Variant	rs28505512
Chromosome Location	chr7:140554360-140554361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10225223	0.88[AFR][1000 genomes]
rs10225852	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227524	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227617	1.00[AMR][1000 genomes]
rs10229313	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233009	0.91[AFR][1000 genomes]
rs10233173	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236260	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238472	0.88[AFR][1000 genomes]
rs10241940	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10245178	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10245975	0.81[AFR][1000 genomes]
rs10247601	1.00[AMR][1000 genomes]
rs10247753	1.00[AMR][1000 genomes]
rs10251357	0.84[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252634	0.87[AFR][1000 genomes]
rs10254605	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10255476	0.84[AFR][1000 genomes]
rs10271135	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10278608	0.88[AFR][1000 genomes]
rs10279071	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10280112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280479	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441168	1.00[AMR][1000 genomes]
rs11974522	0.84[AFR][1000 genomes]
rs11977231	0.88[AFR][1000 genomes]
rs11979399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984018	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437830	0.81[AFR][1000 genomes]
rs28446531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456012	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28481617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28541336	1.00[AMR][1000 genomes]
rs28612236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718470	1.00[AMR][1000 genomes]
rs71645987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1024264	chr7:140539039-140576522	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1027576	chr7:140539039-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1030989	chr7:140547011-140569821	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv1018200	chr7:140547011-140576522	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1022502	chr7:140547011-140576935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
4	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:140524400-140556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
10	chr7:140525600-140557400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:140526000-140556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
14	chr7:140529600-140558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
16	chr7:140530600-140557000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:140530600-140573200	Weak transcription	Gastric	stomach
18	chr7:140531000-140558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:140533600-140561600	Weak transcription	Small Intestine	intestine
20	chr7:140534600-140557000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:140541400-140558200	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:140546000-140567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:140546600-140559000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:140546600-140563200	Weak transcription	K562	blood
27	chr7:140546600-140567200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:140546800-140556400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:140546800-140557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:140546800-140561200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:140546800-140561400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:140546800-140561800	Weak transcription	GM12878-XiMat	blood
33	chr7:140547000-140561000	Weak transcription	Ovary	ovary
34	chr7:140547000-140564600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:140547000-140573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:140547200-140567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:140547200-140567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:140547200-140573200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:140547200-140573400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
41	chr7:140547400-140563400	Weak transcription	Fetal Intestine Small	intestine
42	chr7:140547400-140572400	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:140547600-140563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:140547800-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:140547800-140567600	Weak transcription	Thymus	Thymus
46	chr7:140548000-140557000	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:140548000-140564600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:140548200-140563600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:140548200-140576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:140549000-140556800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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