Variant report

Variant	rs9657947
Chromosome Location	chr12:120759551-120759552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
2	chr12:120754254..120757293-chr12:120758495..120761396,4	MCF-7	breast:
3	chr12:120758856..120760738-chr12:120761822..120763461,2	MCF-7	breast:
4	chr12:120759487..120761384-chr12:120780386..120782433,2	MCF-7	breast:
5	chr12:120728049..120731613-chr12:120758472..120762074,6	K562	blood:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12821493	1.00[LWK][hapmap]
rs17431446	1.00[LWK][hapmap]
rs3864938	1.00[LWK][hapmap]
rs7136961	1.00[LWK][hapmap]
rs9657940	1.00[AFR][1000 genomes]
rs9657946	1.00[AFR][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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
5	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120755400-120759800	Weak transcription	Small Intestine	intestine
2	chr12:120755400-120762800	Weak transcription	Gastric	stomach
3	chr12:120755400-120763200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:120755400-120763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120755800-120759600	Weak transcription	Colonic Mucosa	Colon
6	chr12:120755800-120760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120756000-120763200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:120756200-120763200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:120756200-120763200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:120756200-120763200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:120756200-120763200	Weak transcription	GM12878-XiMat	blood
12	chr12:120756200-120763400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:120757000-120763200	Weak transcription	Thymus	Thymus
14	chr12:120757800-120760600	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:120757800-120760800	Enhancers	Fetal Intestine Small	intestine
16	chr12:120758200-120760200	Enhancers	Stomach Mucosa	stomach
17	chr12:120758200-120760800	Enhancers	Fetal Intestine Large	intestine
18	chr12:120758600-120760000	Enhancers	Liver	Liver
19	chr12:120759000-120759600	Weak transcription	Pancreas	Pancrea
20	chr12:120759000-120759800	Flanking Active TSS	A549	lung
21	chr12:120759000-120759800	Flanking Active TSS	HepG2	liver
22	chr12:120759200-120759800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:120759200-120760000	Enhancers	Fetal Kidney	kidney
24	chr12:120759400-120759800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:120759400-120763200	Weak transcription	K562	blood

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