Variant report

Variant	rs11611307
Chromosome Location	chr12:63154204-63154205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63153929..63156518-chr12:63158042..63160004,2	K562	blood:
2	chr12:63154137..63156513-chr12:63157546..63160196,2	MCF-7	breast:
3	chr12:62990224..62992773-chr12:63153301..63155013,2	K562	blood:
4	chr12:62997413..63000389-chr12:63154055..63157053,2	MCF-7	breast:
5	chr12:62995291..62997610-chr12:63154157..63156822,2	K562	blood:

Variant related genes	Relation type
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2029720	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
3	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:63143800-63155600	Weak transcription	Psoas Muscle	Psoas
6	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:63145800-63154600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:63145800-63155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
11	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:63149000-63155600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:63149800-63154400	Weak transcription	Fetal Stomach	stomach
15	chr12:63149800-63158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:63150800-63155600	Weak transcription	Left Ventricle	heart
18	chr12:63151000-63155600	Weak transcription	Right Atrium	heart
19	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:63151600-63154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:63152200-63155800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:63152400-63154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:63152400-63156000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
26	chr12:63152600-63154600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:63152600-63154600	Weak transcription	NH-A	brain
28	chr12:63152600-63154600	Weak transcription	NHLF	lung
29	chr12:63153200-63158200	Enhancers	Fetal Intestine Large	intestine
30	chr12:63153400-63154600	Enhancers	GM12878-XiMat	blood
31	chr12:63153400-63155600	Enhancers	Fetal Intestine Small	intestine
32	chr12:63153400-63157800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:63153400-63159000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:63153600-63154600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:63153600-63156200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:63153800-63154600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:63153800-63155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:63153800-63155400	Weak transcription	Gastric	stomach
42	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:63154000-63154400	Enhancers	Lung	lung
44	chr12:63154000-63154400	Enhancers	Ovary	ovary
45	chr12:63154000-63155800	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:63154000-63156600	Enhancers	Osteobl	bone
47	chr12:63154000-63157200	Enhancers	Colonic Mucosa	Colon
48	chr12:63154000-63157600	Enhancers	Stomach Mucosa	stomach
49	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:63154200-63154400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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