Variant report

Variant	rs11057003
Chromosome Location	chr12:8190821-8190822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8183829..8185569-chr12:8189686..8192591,2	K562	blood:
2	chr12:8188281..8192732-chr12:8193522..8196171,4	K562	blood:
3	chr12:8189586..8192234-chr12:8230888..8234565,4	K562	blood:
4	chr12:8190238..8192234-chr12:8232892..8234832,2	K562	blood:
5	chr12:8188270..8191045-chr12:8232664..8235322,4	MCF-7	breast:
6	chr12:8184049..8188047-chr12:8189263..8193320,7	MCF-7	breast:
7	chr12:8189818..8192986-chr12:8193522..8196804,4	K562	blood:

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction
ENSG00000065970	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10846377	0.81[JPT][hapmap]
rs11829998	1.00[EUR][1000 genomes]
rs11837108	1.00[EUR][1000 genomes]
rs3759280	0.80[AMR][1000 genomes]

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	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8186200-8191400	Enhancers	Small Intestine	intestine
2	chr12:8186400-8191000	Enhancers	Spleen	Spleen
3	chr12:8186600-8191800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:8186600-8192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:8186800-8191000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:8186800-8191200	Enhancers	Fetal Thymus	thymus
7	chr12:8186800-8191800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:8186800-8191800	Enhancers	Lung	lung
9	chr12:8186800-8192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:8187000-8191000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:8187000-8191000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:8187000-8191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:8187000-8191200	Enhancers	Pancreas	Pancrea
14	chr12:8187000-8192000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:8187200-8191200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:8187200-8192000	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:8187200-8192000	Enhancers	Liver	Liver
18	chr12:8187400-8191000	Weak transcription	A549	lung
19	chr12:8187600-8191000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:8187600-8191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:8187600-8191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:8187600-8191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:8187600-8192600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr12:8187800-8191000	Enhancers	Fetal Brain Female	brain
25	chr12:8187800-8191200	Enhancers	Fetal Lung	lung
26	chr12:8187800-8192000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:8188000-8191000	Enhancers	Brain Anterior Caudate	brain
28	chr12:8188000-8192200	Enhancers	Stomach Mucosa	stomach
29	chr12:8188200-8191200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:8188200-8191600	Enhancers	Right Ventricle	heart
31	chr12:8188400-8191000	Enhancers	Colon Smooth Muscle	Colon
32	chr12:8188400-8191200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:8188400-8191200	Enhancers	Left Ventricle	heart
34	chr12:8188400-8191200	Enhancers	Right Atrium	heart
35	chr12:8188400-8191200	Genic enhancers	Dnd41	blood
36	chr12:8188400-8191200	Enhancers	K562	blood
37	chr12:8188600-8191000	Enhancers	Brain Substantia Nigra	brain
38	chr12:8188600-8191000	Enhancers	Psoas Muscle	Psoas
39	chr12:8188800-8191000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:8189000-8191000	Strong transcription	Fetal Intestine Small	intestine
41	chr12:8189000-8191200	Enhancers	Aorta	Aorta
42	chr12:8189000-8191200	Enhancers	Fetal Brain Male	brain
43	chr12:8189000-8191800	Enhancers	Gastric	stomach
44	chr12:8189200-8191000	Enhancers	Esophagus	oesophagus
45	chr12:8189400-8191000	Enhancers	Brain Hippocampus Middle	brain
46	chr12:8189400-8191000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:8189600-8191200	Enhancers	Brain Germinal Matrix	brain
48	chr12:8189600-8191200	Enhancers	Ovary	ovary
49	chr12:8189600-8191400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:8189800-8191000	Enhancers	HUES64 Cell Line	embryonic stem cell

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