Variant report

Variant	rs73995910
Chromosome Location	chr2:234257269-234257270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234255807..234258253-chr2:234261320..234263742,3	MCF-7	breast:
2	chr2:234243954..234247958-chr2:234256896..234259564,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259793	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000243637	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59125245	0.80[AFR][1000 genomes]
rs6431327	0.94[AFR][1000 genomes]
rs73995917	0.89[AFR][1000 genomes]
rs7588587	0.84[AFR][1000 genomes]

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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234244600-234257800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:234247600-234257400	Weak transcription	Spleen	Spleen
3	chr2:234255000-234257800	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:234255000-234260000	Enhancers	Liver	Liver
5	chr2:234255400-234257600	Enhancers	Brain Anterior Caudate	brain
6	chr2:234255600-234258600	Enhancers	Brain Substantia Nigra	brain
7	chr2:234255800-234258600	Flanking Active TSS	HepG2	liver
8	chr2:234255800-234262400	Weak transcription	Right Atrium	heart
9	chr2:234256000-234257600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:234256000-234257800	Weak transcription	K562	blood
11	chr2:234256200-234260800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:234256400-234260400	Enhancers	Fetal Intestine Small	intestine
13	chr2:234256400-234262400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:234256600-234257400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:234256600-234257800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:234256600-234259800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:234256600-234261400	Enhancers	Primary B cells from cord blood	blood
18	chr2:234256800-234257600	Enhancers	Brain Hippocampus Middle	brain
19	chr2:234256800-234257800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:234256800-234258000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:234256800-234258400	Enhancers	Gastric	stomach
22	chr2:234256800-234258800	Enhancers	Brain Angular Gyrus	brain
23	chr2:234256800-234262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:234257000-234257400	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:234257000-234257600	Enhancers	Hela-S3	cervix
26	chr2:234257000-234257600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:234257000-234258800	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:234257000-234259200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:234257000-234262200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:234257200-234257400	Enhancers	Small Intestine	intestine
31	chr2:234257200-234259400	Enhancers	Fetal Thymus	thymus
32	chr2:234257200-234260000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:234257200-234260400	Enhancers	Primary hematopoietic stem cells	blood

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