Variant report

Variant	rs7794303
Chromosome Location	chr7:127545943-127545944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127540563..127543536-chr7:127545716..127548575,3	K562	blood:
2	chr7:127544913..127546736-chr7:127548351..127550204,2	K562	blood:
3	chr7:127545052..127549084-chr7:127551154..127554840,4	K562	blood:
4	chr7:127545052..127549084-chr7:127550970..127554840,5	K562	blood:
5	chr7:127541840..127544153-chr7:127545311..127547804,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1019578	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228031	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025075	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10487503	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1073155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468701	0.90[ASN][1000 genomes]
rs1468702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17151515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151567	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151575	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1833146	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966517	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs325438	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325439	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325443	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325448	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325449	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325450	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728082	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731379	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731382	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731383	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731384	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731390	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731391	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs61743021	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467142	0.94[ASN][1000 genomes]
rs6467146	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6467147	0.94[ASN][1000 genomes]
rs6467149	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6467150	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6467151	0.94[ASN][1000 genomes]
rs6467154	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6946590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6950211	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6952123	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6952734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964714	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972398	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6972816	0.84[ASN][1000 genomes]
rs6975274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6979918	0.94[ASN][1000 genomes]
rs698409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73721253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73721258	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73721261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7458839	0.84[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]
rs7809182	1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
5	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
8	chr7:127532400-127547400	Weak transcription	A549	lung
9	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:127538400-127546000	Weak transcription	NHLF	lung
12	chr7:127538800-127546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
14	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
16	chr7:127541400-127550800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:127541800-127546000	Weak transcription	Small Intestine	intestine
18	chr7:127542600-127546200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:127542600-127546600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:127542600-127547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:127542600-127547400	Weak transcription	Fetal Kidney	kidney
22	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:127542600-127553000	Weak transcription	Ovary	ovary
24	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:127542800-127552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:127542800-127554200	Weak transcription	Gastric	stomach
27	chr7:127543400-127546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:127543400-127549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:127543600-127546000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:127543600-127546400	Strong transcription	Dnd41	blood
31	chr7:127543600-127551400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:127543800-127546000	Enhancers	Brain Hippocampus Middle	brain
33	chr7:127544000-127546200	Enhancers	Brain Anterior Caudate	brain
34	chr7:127544000-127546200	Enhancers	Osteobl	bone
35	chr7:127544000-127546400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:127544000-127546600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:127544000-127547000	Enhancers	HMEC	breast
38	chr7:127544000-127547000	Strong transcription	K562	blood
39	chr7:127544000-127547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:127544000-127548400	Genic enhancers	GM12878-XiMat	blood
41	chr7:127544000-127549000	Enhancers	HepG2	liver
42	chr7:127544000-127549600	Enhancers	Fetal Intestine Small	intestine
43	chr7:127544200-127546000	Enhancers	NHEK	skin
44	chr7:127544200-127546800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr7:127544200-127551000	Weak transcription	Spleen	Spleen
46	chr7:127544400-127546000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:127544400-127546000	Enhancers	Brain Substantia Nigra	brain
48	chr7:127544400-127546200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:127544400-127546200	Enhancers	Primary T cells from cord blood	blood
50	chr7:127544400-127546400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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