Variant report

Variant	rs11611059
Chromosome Location	chr12:104208249-104208250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104206123..104208804-chr12:104221926..104227695,4	K562	blood:
2	chr12:104207300..104208804-chr12:104224699..104227695,2	K562	blood:
3	chr12:104206137..104208857-chr12:104227836..104229349,2	K562	blood:
4	chr12:104207954..104212094-chr12:104233273..104237214,4	K562	blood:
5	chr12:104200580..104204661-chr12:104208067..104211223,3	K562	blood:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11608250	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11610831	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11615701	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11616182	0.81[EUR][1000 genomes]
rs59991655	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73175815	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:104187800-104212600	Weak transcription	GM12878-XiMat	blood
4	chr12:104191000-104209800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:104191000-104211800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:104194600-104214600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:104194600-104214800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:104194800-104215200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:104195000-104208600	Weak transcription	Left Ventricle	heart
11	chr12:104195000-104213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:104195800-104208400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:104196400-104213600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:104196400-104214800	Weak transcription	Brain Substantia Nigra	brain
15	chr12:104196400-104221800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:104196600-104212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:104196600-104213000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:104199200-104211000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:104199200-104211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:104199600-104214600	Weak transcription	Esophagus	oesophagus
21	chr12:104200000-104214600	Weak transcription	Ovary	ovary
22	chr12:104200200-104216200	Weak transcription	NHDF-Ad	bronchial
23	chr12:104200400-104210000	Weak transcription	Hela-S3	cervix
24	chr12:104201000-104214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:104201400-104209000	Weak transcription	HUVEC	blood vessel
26	chr12:104201400-104214800	Weak transcription	NHLF	lung
27	chr12:104201600-104212600	Weak transcription	Psoas Muscle	Psoas
28	chr12:104201800-104208600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:104201800-104208800	Strong transcription	HMEC	breast
30	chr12:104202000-104208800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:104202200-104209400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:104202200-104218200	Weak transcription	Gastric	stomach
33	chr12:104202400-104214800	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:104203600-104209200	Strong transcription	NHEK	skin
35	chr12:104203800-104208600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:104204000-104209200	Strong transcription	Primary T cells from cord blood	blood
37	chr12:104204000-104214600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:104204200-104208600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:104204400-104208800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:104204600-104208800	Strong transcription	K562	blood
41	chr12:104204800-104208400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:104205200-104208600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:104205200-104208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:104205400-104208800	Strong transcription	HepG2	liver
45	chr12:104205800-104214600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:104206400-104208400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:104206400-104208800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:104206600-104208600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:104206600-104208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:104206800-104208600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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