Variant report

Variant	rs34100010
Chromosome Location	chr12:57602081-57602082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57598445..57603565-chr12:57603905..57607963,7	K562	blood:
2	chr12:57595969..57599532-chr12:57601036..57603352,3	MCF-7	breast:
3	chr12:57602021..57603919-chr12:57605356..57607046,2	MCF-7	breast:
4	chr12:57599755..57603082-chr12:57604148..57606889,3	K562	blood:

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11557168	1.00[MEX][hapmap]
rs12312567	1.00[MEX][hapmap]
rs12369946	1.00[YRI][hapmap]
rs2229716	1.00[LWK][hapmap]
rs34664115	1.00[AFR][1000 genomes]
rs35827450	1.00[MEX][hapmap]
rs35835063	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv869636	chr12:57590172-57613714	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv559028	chr12:57594937-57603277	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv559031	chr12:57597169-57602081	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
14	chr12:57570600-57606800	Strong transcription	Osteobl	bone
15	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
18	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
20	chr12:57576800-57606600	Strong transcription	HepG2	liver
21	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
22	chr12:57577000-57606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57577000-57606400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:57577000-57606400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:57577000-57606400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:57577000-57606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:57577000-57606800	Strong transcription	Colonic Mucosa	Colon
28	chr12:57577000-57606800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:57577000-57606800	Strong transcription	Ovary	ovary
30	chr12:57577200-57605800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr12:57577200-57606000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:57577200-57606400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:57577200-57606400	Strong transcription	Aorta	Aorta
34	chr12:57577200-57606400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:57577200-57606400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:57577200-57606600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:57577200-57606800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:57577200-57606800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:57577200-57606800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:57577200-57606800	Weak transcription	A549	lung
41	chr12:57577400-57606600	Strong transcription	Esophagus	oesophagus
42	chr12:57577600-57606800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:57577600-57607200	Weak transcription	NHEK	skin
44	chr12:57581800-57604800	Strong transcription	HSMM	muscle
45	chr12:57582600-57607200	Weak transcription	HMEC	breast
46	chr12:57584400-57602200	Weak transcription	Right Atrium	heart
47	chr12:57584400-57604200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr12:57584400-57606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:57584600-57605800	Strong transcription	Lung	lung
50	chr12:57584800-57604800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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