Variant report

Variant	rs6963446
Chromosome Location	chr7:150416506-150416507
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	chr7:150412516..150414519-chr7:150415400..150417052,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP5-3	chr7:150416130-150416604	NONHSAT124148

Variant related genes	Relation type
ENSG00000213203	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11975119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57500387	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73476578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73478424	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150414000-150419400	Weak transcription	Fetal Lung	lung
2	chr7:150414400-150417400	Weak transcription	Esophagus	oesophagus
3	chr7:150414400-150419200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:150414400-150419600	Weak transcription	Gastric	stomach
5	chr7:150414600-150418000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:150414600-150421800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:150415200-150417800	Weak transcription	Colonic Mucosa	Colon
8	chr7:150415200-150419000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:150415200-150419200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:150415200-150419400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:150415200-150420400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
12	chr7:150415200-150424800	Weak transcription	Pancreas	Pancrea
13	chr7:150415400-150416600	Weak transcription	Placenta	Placenta
14	chr7:150415400-150416600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:150415400-150417200	Weak transcription	Lung	lung
16	chr7:150415400-150418000	Genic enhancers	Dnd41	blood
17	chr7:150415400-150419000	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:150415400-150419000	Weak transcription	Small Intestine	intestine
19	chr7:150415400-150419200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:150415600-150416800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150415600-150418000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
22	chr7:150415600-150419600	Weak transcription	Right Ventricle	heart
23	chr7:150415800-150417000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
24	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
26	chr7:150415800-150419400	Weak transcription	Liver	Liver
27	chr7:150415800-150420800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150416000-150416600	Genic enhancers	Primary B cells from cord blood	blood
29	chr7:150416000-150416600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150416000-150416600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:150416000-150417000	Enhancers	Adipose Nuclei	Adipose
35	chr7:150416000-150417200	Weak transcription	Thymus	Thymus
36	chr7:150416000-150417400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:150416000-150417400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:150416000-150417600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:150416000-150417800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
40	chr7:150416000-150419200	Weak transcription	Brain Anterior Caudate	brain
41	chr7:150416000-150419400	Strong transcription	Fetal Thymus	thymus
42	chr7:150416000-150420200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:150416200-150417000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
44	chr7:150416200-150417000	Enhancers	Spleen	Spleen
45	chr7:150416200-150417200	Weak transcription	Left Ventricle	heart
46	chr7:150416200-150418200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
47	chr7:150416200-150419000	Strong transcription	HUVEC	blood vessel
48	chr7:150416200-150420600	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:150416200-150420800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr7:150416400-150416600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood

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