Variant report

Variant	rs73951135
Chromosome Location	chr2:74304893-74304894
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74302146..74304941-chr2:74345913..74348314,2	K562	blood:
2	chr2:74303308..74305107-chr2:74335863..74338424,2	K562	blood:
3	chr2:74210506..74213042-chr2:74302850..74305189,2	K562	blood:
4	chr2:74210549..74215392-chr2:74304825..74309552,5	MCF-7	breast:
5	chr2:74304387..74306853-chr2:74424406..74426572,2	MCF-7	breast:
6	chr2:74303366..74305130-chr2:74308677..74311311,2	K562	blood:
7	chr2:74211335..74216336-chr2:74300187..74305558,7	MCF-7	breast:
8	chr2:74279875..74281747-chr2:74304788..74307003,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
rs56220427	1.00[AFR][1000 genomes]
rs57078518	1.00[AFR][1000 genomes]
rs60232103	1.00[AFR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951131	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951134	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
3	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
4	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
5	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
12	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
13	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
15	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
17	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
20	chr2:74287400-74306600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:74291800-74307400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:74294000-74307600	Weak transcription	Ovary	ovary
25	chr2:74294400-74307200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:74294600-74307000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:74295000-74307400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:74295200-74306800	Weak transcription	Lung	lung
29	chr2:74295800-74305200	Strong transcription	Primary B cells from cord blood	blood
30	chr2:74296200-74306800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:74296600-74307800	Weak transcription	Colonic Mucosa	Colon
32	chr2:74298000-74305000	Strong transcription	Primary T cells from cord blood	blood
33	chr2:74298400-74306800	Weak transcription	Fetal Stomach	stomach
34	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:74299200-74307000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:74299200-74307600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:74299400-74306800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:74299800-74332000	Strong transcription	Dnd41	blood
39	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:74300000-74306800	Weak transcription	HSMM	muscle
41	chr2:74300000-74307000	Weak transcription	Osteobl	bone
42	chr2:74300000-74314200	Weak transcription	HMEC	breast
43	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:74300200-74305000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:74300200-74305000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:74300400-74305200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:74300400-74305200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:74300400-74308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:74300600-74305000	Strong transcription	Fetal Intestine Large	intestine
50	chr2:74300800-74305000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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