Variant report

Variant	rs4348382
Chromosome Location	chr7:11035098-11035099
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	chr7:11034938..11037740-chr7:11039775..11043561,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10257220	1.00[ASN][1000 genomes]
rs10487898	1.00[ASN][1000 genomes]
rs12666576	0.98[ASN][1000 genomes]
rs12669769	0.95[ASN][1000 genomes]
rs12670220	1.00[ASN][1000 genomes]
rs12671481	0.95[ASN][1000 genomes]
rs12671644	0.95[ASN][1000 genomes]
rs12672069	1.00[ASN][1000 genomes]
rs12672128	1.00[ASN][1000 genomes]
rs12674325	1.00[ASN][1000 genomes]
rs16876770	0.94[EUR][1000 genomes]
rs16876772	0.90[ASN][1000 genomes]
rs16876779	1.00[ASN][1000 genomes]
rs17149825	0.90[ASN][1000 genomes]
rs17149830	0.90[ASN][1000 genomes]
rs17149834	1.00[ASN][1000 genomes]
rs17149838	1.00[ASN][1000 genomes]
rs17163803	0.86[ASN][1000 genomes]
rs17163857	0.90[ASN][1000 genomes]
rs17163872	0.90[ASN][1000 genomes]
rs17163880	0.90[ASN][1000 genomes]
rs17163892	0.92[ASN][1000 genomes]
rs17163894	0.95[ASN][1000 genomes]
rs17163895	0.95[ASN][1000 genomes]
rs17163897	1.00[ASN][1000 genomes]
rs17163898	1.00[ASN][1000 genomes]
rs17163903	1.00[ASN][1000 genomes]
rs17163914	0.92[ASN][1000 genomes]
rs17163915	0.95[ASN][1000 genomes]
rs17163919	1.00[ASN][1000 genomes]
rs17163921	1.00[ASN][1000 genomes]
rs2301960	0.95[ASN][1000 genomes]
rs2301961	1.00[ASN][1000 genomes]
rs2301962	1.00[ASN][1000 genomes]
rs28670953	0.92[ASN][1000 genomes]
rs3779409	0.95[ASN][1000 genomes]
rs3779410	1.00[ASN][1000 genomes]
rs3801434	1.00[ASN][1000 genomes]
rs3801439	1.00[ASN][1000 genomes]
rs3801440	1.00[ASN][1000 genomes]
rs3801443	1.00[ASN][1000 genomes]
rs3801445	0.98[ASN][1000 genomes]
rs3815234	1.00[ASN][1000 genomes]
rs4398795	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4521663	0.95[ASN][1000 genomes]
rs60680874	1.00[ASN][1000 genomes]
rs61011519	1.00[ASN][1000 genomes]
rs6950505	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6951535	1.00[ASN][1000 genomes]
rs6956108	1.00[ASN][1000 genomes]
rs6970876	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357146	0.95[EUR][1000 genomes]
rs73678561	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014200-11038600	Weak transcription	Small Intestine	intestine
2	chr7:11014600-11035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:11014600-11038600	Weak transcription	Psoas Muscle	Psoas
4	chr7:11014600-11045400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
6	chr7:11014800-11039200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:11014800-11054200	Weak transcription	NHLF	lung
8	chr7:11014800-11075200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
10	chr7:11015000-11037400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:11015000-11037400	Weak transcription	NHEK	skin
12	chr7:11015000-11064000	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:11016800-11057200	Weak transcription	Fetal Brain Male	brain
15	chr7:11017200-11076000	Weak transcription	HUVEC	blood vessel
16	chr7:11017800-11037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:11018600-11035200	Weak transcription	Aorta	Aorta
18	chr7:11018600-11063800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:11020800-11037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:11022800-11035200	Weak transcription	Gastric	stomach
21	chr7:11022800-11035200	Weak transcription	Pancreas	Pancrea
22	chr7:11022800-11035600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:11022800-11037600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:11022800-11044800	Weak transcription	Hela-S3	cervix
25	chr7:11022800-11071000	Weak transcription	Right Ventricle	heart
26	chr7:11023000-11038200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:11023000-11053600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:11023200-11035200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:11023200-11035400	Weak transcription	Brain Anterior Caudate	brain
30	chr7:11023200-11076200	Weak transcription	NH-A	brain
31	chr7:11023600-11053600	Weak transcription	Fetal Kidney	kidney
32	chr7:11023800-11038800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:11026600-11037200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:11027800-11038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:11028600-11037800	Weak transcription	Stomach Mucosa	stomach
36	chr7:11029200-11035600	Strong transcription	Fetal Thymus	thymus
37	chr7:11029200-11039400	Strong transcription	Dnd41	blood
38	chr7:11029600-11035200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:11030400-11035400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:11030600-11035800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:11031600-11036000	Strong transcription	A549	lung
42	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:11031800-11035200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:11032000-11036600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:11032200-11035400	Strong transcription	Fetal Brain Female	brain
46	chr7:11032200-11037200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:11032200-11037200	Strong transcription	Primary T cells from cord blood	blood
48	chr7:11032200-11037400	Strong transcription	Primary B cells from cord blood	blood
49	chr7:11032400-11035200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:11032400-11036400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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