Variant report

Variant	rs73996128
Chromosome Location	chr2:234469437-234469438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234468108..234469829-chr2:234620038..234622654,2	MCF-7	breast:
2	chr2:234465521..234470756-chr2:234471453..234476730,10	MCF-7	breast:
3	chr2:234464618..234469702-chr2:234598682..234603333,7	MCF-7	breast:
4	chr2:234465036..234467198-chr2:234467958..234469567,2	K562	blood:
5	chr2:234466977..234469529-chr2:234473794..234475392,2	K562	blood:
6	chr2:234468847..234471502-chr2:234600435..234602323,2	MCF-7	breast:
7	chr2:234463856..234470010-chr2:234471624..234476696,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000240224	Chromatin interaction

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

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

rs_ID	r²[population]
rs28948380	1.00[AMR][1000 genomes]
rs28966994	1.00[AMR][1000 genomes]
rs28968501	1.00[AMR][1000 genomes]
rs28968511	1.00[AMR][1000 genomes]
rs28968512	1.00[AMR][1000 genomes]
rs28968514	1.00[AMR][1000 genomes]
rs59123908	1.00[AMR][1000 genomes]
rs61158161	1.00[AMR][1000 genomes]
rs6431482	1.00[AMR][1000 genomes]
rs73996106	1.00[AMR][1000 genomes]
rs73996129	1.00[AMR][1000 genomes]
rs73997634	1.00[AMR][1000 genomes]
rs73997635	1.00[AMR][1000 genomes]
rs73997639	1.00[AMR][1000 genomes]
rs73997640	1.00[AMR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
2	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
3	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
9	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
10	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:234441600-234474800	Weak transcription	Gastric	stomach
12	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
16	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:234455400-234474400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:234456600-234474000	Weak transcription	Fetal Brain Male	brain
19	chr2:234457400-234474000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:234459200-234469800	Strong transcription	Liver	Liver
21	chr2:234459600-234470000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:234460000-234469800	Strong transcription	Adipose Nuclei	Adipose
23	chr2:234460600-234474000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:234461400-234469600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:234461800-234474000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:234463000-234474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234463200-234473400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:234464800-234469600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:234465000-234469600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:234465800-234469600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:234465800-234472400	Weak transcription	K562	blood
32	chr2:234466000-234474000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:234466000-234474600	Weak transcription	Pancreas	Pancrea
34	chr2:234466200-234469600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:234466200-234474200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:234466400-234471600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:234466400-234472400	Weak transcription	Lung	lung
38	chr2:234466400-234474000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:234466400-234474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:234466400-234474400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:234466400-234474400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:234466400-234474800	Weak transcription	Esophagus	oesophagus
43	chr2:234466600-234471600	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:234466600-234473400	Weak transcription	NHLF	lung
45	chr2:234466600-234474000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:234466600-234474000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:234466600-234474000	Weak transcription	NH-A	brain
48	chr2:234466600-234474200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:234466600-234474200	Weak transcription	Thymus	Thymus
50	chr2:234466600-234474400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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