Variant report

Variant	rs73955170
Chromosome Location	chr2:113922360-113922361
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113914220..113919352-chr2:113920287..113927373,11	MCF-7	breast:
2	chr2:113911176..113912907-chr2:113922256..113923877,2	MCF-7	breast:
3	chr2:113917155..113920806-chr2:113921450..113923918,4	MCF-7	breast:
4	chr2:113914138..113916713-chr2:113918007..113922914,4	K562	blood:
5	chr2:113919676..113922508-chr2:113929408..113931402,2	K562	blood:
6	chr2:113913709..113916630-chr2:113917951..113924998,9	MCF-7	breast:
7	chr2:113920848..113928426-chr2:113929867..113935117,10	K562	blood:
8	chr2:113920491..113922506-chr2:113933722..113935359,2	MCF-7	breast:
9	chr2:113921088..113923644-chr2:113924466..113926156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234174	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13417336	1.00[AMR][1000 genomes]
rs4251955	1.00[AMR][1000 genomes]
rs73955150	1.00[AMR][1000 genomes]
rs73955169	1.00[AMR][1000 genomes]
rs73955175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579271	1.00[AMR][1000 genomes]
rs7589177	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113916200-113922800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:113916600-113922400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:113916600-113924200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:113917200-113922400	Weak transcription	Lung	lung
6	chr2:113917200-113922800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:113917200-113923000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:113917200-113923600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:113919800-113923200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:113920800-113922800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:113920800-113922800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:113920800-113923000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:113920800-113923000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:113920800-113923800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:113920800-113924600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:113921000-113924600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:113921000-113927600	Enhancers	Liver	Liver
18	chr2:113921600-113922800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113921600-113923000	Enhancers	NHEK	skin
20	chr2:113921600-113923200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:113921600-113923800	Enhancers	Colonic Mucosa	Colon
22	chr2:113921600-113926200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:113921800-113922400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:113921800-113922400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:113921800-113922400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:113921800-113922400	Enhancers	Small Intestine	intestine
27	chr2:113921800-113922600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:113921800-113922600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:113921800-113922800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:113921800-113922800	Enhancers	Esophagus	oesophagus
31	chr2:113921800-113922800	Enhancers	Stomach Mucosa	stomach
32	chr2:113921800-113923000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:113921800-113923000	Enhancers	Placenta	Placenta
34	chr2:113921800-113923000	Enhancers	Gastric	stomach
35	chr2:113921800-113923000	Enhancers	HMEC	breast
36	chr2:113921800-113923400	Enhancers	Pancreas	Pancrea
37	chr2:113921800-113923800	Enhancers	Fetal Intestine Large	intestine
38	chr2:113921800-113923800	Flanking Active TSS	HepG2	liver
39	chr2:113921800-113924800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:113921800-113926400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:113921800-113927000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:113922000-113922600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:113922000-113922800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:113922000-113923800	Enhancers	Fetal Intestine Small	intestine
45	chr2:113922000-113924800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:113922200-113922600	Enhancers	K562	blood
47	chr2:113922200-113923000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:113922200-113923200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:113922200-113923400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:113922200-113924600	Weak transcription	Spleen	Spleen

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