Variant report

Variant	rs17801032
Chromosome Location	chr12:2119359-2119360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2114247..2116359-chr12:2119170..2120870,3	MCF-7	breast:
2	chr12:2113459..2116704-chr12:2118146..2120984,3	K562	blood:
3	chr12:2119233..2121473-chr12:2124608..2126264,2	K562	blood:
4	chr12:2117339..2119522-chr12:2122149..2125157,3	MCF-7	breast:
5	chr12:2111275..2113924-chr12:2116721..2119368,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203593	Chromatin interaction
ENSG00000151065	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735005	1.00[CHB][hapmap]
rs11062008	1.00[CHB][hapmap]
rs12368779	1.00[CHB][hapmap]
rs1558142	1.00[CHB][hapmap]
rs2013064	1.00[CHB][hapmap]
rs2429155	1.00[CHB][hapmap]
rs2429159	1.00[CHB][hapmap]
rs2429163	1.00[CHB][hapmap]
rs2429167	1.00[CHB][hapmap]
rs2429169	1.00[CHB][hapmap]
rs2470438	1.00[CHB][hapmap]
rs2470439	1.00[CHB][hapmap]
rs2906892	1.00[CHB][hapmap]
rs720456	1.00[CHB][hapmap]
rs7315910	1.00[CHB][hapmap]
rs758158	1.00[CHB][hapmap]
rs7967149	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181786	1.00[CHB][hapmap]
rs886939	1.00[CHB][hapmap]
rs886941	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv525455	chr12:2065370-2135026	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1042378	chr12:2077897-2129773	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2114000-2120400	Weak transcription	Left Ventricle	heart
2	chr12:2114000-2122800	Weak transcription	Ovary	ovary
3	chr12:2114200-2122800	Weak transcription	Right Atrium	heart
4	chr12:2114600-2122200	Weak transcription	Stomach Mucosa	stomach
5	chr12:2117600-2119600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:2117600-2122800	Enhancers	Fetal Heart	heart
7	chr12:2118400-2119400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:2118400-2119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:2118400-2119600	Enhancers	HepG2	liver
10	chr12:2118400-2122800	Weak transcription	Fetal Lung	lung
11	chr12:2118400-2123600	Enhancers	Liver	Liver
12	chr12:2118600-2119400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:2118600-2120000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:2118800-2119400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr12:2119000-2120600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:2119000-2120600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:2119000-2120800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:2119000-2121200	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:2119000-2121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:2119000-2121400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:2119000-2121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:2119000-2121800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:2119000-2122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:2119200-2120400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:2119200-2120400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:2119200-2120600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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