Variant report

Variant	rs11972248
Chromosome Location	chr7:124489010-124489011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12706628	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
6	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
12	chr7:124461600-124490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:124461600-124493400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:124462200-124495000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:124462200-124498200	Weak transcription	Psoas Muscle	Psoas
17	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:124462400-124497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:124464400-124497200	Weak transcription	Brain Germinal Matrix	brain
25	chr7:124464400-124497600	Weak transcription	Lung	lung
26	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:124465000-124489400	Weak transcription	Hela-S3	cervix
29	chr7:124466000-124491000	Weak transcription	Fetal Intestine Small	intestine
30	chr7:124466400-124497600	Weak transcription	Fetal Thymus	thymus
31	chr7:124466400-124497600	Weak transcription	Spleen	Spleen
32	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
33	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:124466600-124491000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:124466800-124497600	Weak transcription	Aorta	Aorta
37	chr7:124466800-124497800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:124466800-124540800	Weak transcription	Gastric	stomach
39	chr7:124467000-124497400	Weak transcription	Ovary	ovary
40	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:124467400-124497400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:124467600-124530600	Weak transcription	NH-A	brain
43	chr7:124467800-124490600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:124470200-124490800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:124474200-124509600	Weak transcription	HMEC	breast
47	chr7:124475000-124494400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:124475400-124490400	Weak transcription	Fetal Stomach	stomach
49	chr7:124475400-124497400	Weak transcription	Thymus	Thymus
50	chr7:124475400-124497600	Weak transcription	Left Ventricle	heart

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