Variant report

Variant	rs530643542
Chromosome Location	chr7:11124781-11124782
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	chr7:11124384..11127270-chr7:11131542..11136731,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
8	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
9	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
10	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
11	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
12	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv1025368	chr7:11124528-11162451	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv1026282	chr7:11124528-11163828	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
4	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
5	chr7:11076400-11193200	Weak transcription	Ovary	ovary
6	chr7:11077000-11130600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:11086600-11143800	Weak transcription	HUVEC	blood vessel
9	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
10	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
11	chr7:11097400-11129000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:11099800-11128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:11102200-11126200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:11102600-11127000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:11102600-11134200	Weak transcription	Adipose Nuclei	Adipose
18	chr7:11102600-11144000	Weak transcription	Liver	Liver
19	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:11105800-11125200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:11107600-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
27	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:11109000-11143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:11112400-11134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:11112600-11125000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:11112600-11129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:11113600-11166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:11113800-11129400	Weak transcription	Fetal Lung	lung
35	chr7:11113800-11155600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:11114000-11132800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:11114400-11127200	Weak transcription	Dnd41	blood
38	chr7:11114400-11143800	Weak transcription	Fetal Thymus	thymus
39	chr7:11114600-11133000	Weak transcription	Primary T cells from cord blood	blood
40	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
41	chr7:11114800-11142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:11117800-11125600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:11118000-11199000	Weak transcription	HSMM	muscle
44	chr7:11122800-11128000	Weak transcription	K562	blood
45	chr7:11122800-11130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:11122800-11153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:11122800-11169800	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:11123000-11125400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:11123000-11129600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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