Variant report

Variant	rs1796514
Chromosome Location	chr7:112419203-112419204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112417809..112419627-chr7:112422928..112424972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1237908	0.97[AFR][1000 genomes]
rs1718954	0.94[AFR][1000 genomes]
rs1718956	0.94[AFR][1000 genomes]
rs1718960	0.81[AFR][1000 genomes]
rs1718962	0.87[AFR][1000 genomes]
rs1796501	0.94[AFR][1000 genomes]
rs2687271	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
4	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
6	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
7	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
11	chr7:112398800-112428800	Weak transcription	Gastric	stomach
12	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
14	chr7:112400200-112429000	Weak transcription	HSMM	muscle
15	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
16	chr7:112403400-112428600	Weak transcription	Fetal Stomach	stomach
17	chr7:112404800-112422400	Weak transcription	Fetal Thymus	thymus
18	chr7:112404800-112422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:112404800-112427000	Weak transcription	Small Intestine	intestine
20	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
21	chr7:112405000-112421200	Weak transcription	HUVEC	blood vessel
22	chr7:112405000-112423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:112405200-112422400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:112405200-112422600	Weak transcription	Liver	Liver
25	chr7:112405400-112419800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:112405400-112423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:112405400-112423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:112405400-112428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:112405600-112420000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:112405600-112422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:112405600-112428800	Weak transcription	Osteobl	bone
32	chr7:112405800-112421400	Weak transcription	Stomach Mucosa	stomach
33	chr7:112405800-112422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:112405800-112422800	Weak transcription	Lung	lung
35	chr7:112405800-112422800	Weak transcription	K562	blood
36	chr7:112405800-112428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:112406000-112422600	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:112406200-112422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:112406200-112422800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:112406400-112422400	Weak transcription	Psoas Muscle	Psoas
44	chr7:112406400-112422800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:112406400-112428800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:112406400-112429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:112406600-112428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:112406800-112423400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:112407600-112419400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:112407600-112422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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