Variant report

Variant	rs6708335
Chromosome Location	chr2:33530845-33530846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33514697..33516578-chr2:33527291..33531093,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495788	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs11682866	1.00[CEU][hapmap]
rs11685108	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs11689160	1.00[CEU][hapmap]
rs11689377	1.00[CEU][hapmap]
rs11694122	1.00[CEU][hapmap]
rs11694765	1.00[CEU][hapmap]
rs17012763	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17038524	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3754830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769528	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs3769529	0.90[JPT][hapmap]
rs3769547	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3820912	0.94[ASN][1000 genomes]
rs56203414	0.85[EUR][1000 genomes]
rs57189309	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
3	chr2:33517200-33533000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:33517200-33533200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
6	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
7	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
8	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:33517600-33532600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:33517600-33532800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:33523400-33532600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:33523600-33546200	Weak transcription	K562	blood
15	chr2:33523800-33536400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
18	chr2:33524600-33531600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr2:33524600-33535800	Strong transcription	Osteobl	bone
20	chr2:33524600-33537600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33524800-33533400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:33525000-33537600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:33525400-33531000	Strong transcription	NHLF	lung
24	chr2:33525800-33531000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:33527400-33536800	Weak transcription	NHDF-Ad	bronchial
26	chr2:33527600-33537800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:33527800-33540000	Weak transcription	Placenta	Placenta
28	chr2:33528400-33531800	Strong transcription	Liver	Liver
29	chr2:33529000-33538400	Weak transcription	Aorta	Aorta
30	chr2:33529000-33538400	Weak transcription	Ovary	ovary
31	chr2:33529000-33541400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:33529800-33531000	Enhancers	Stomach Mucosa	stomach
34	chr2:33529800-33533000	Weak transcription	NH-A	brain
35	chr2:33529800-33537000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:33529800-33538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:33529800-33539000	Weak transcription	Fetal Stomach	stomach
38	chr2:33529800-33540200	Weak transcription	Left Ventricle	heart
39	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
40	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
41	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
42	chr2:33530000-33532400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:33530000-33534400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:33530000-33536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:33530000-33539400	Weak transcription	Fetal Heart	heart
46	chr2:33530000-33543000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:33530800-33531000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:33530800-33532200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:33530800-33538400	Weak transcription	Fetal Muscle Leg	muscle

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