Variant report

Variant	rs2245972
Chromosome Location	chr6:36172374-36172375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35995409..35998293-chr6:36169969..36172961,2	K562	blood:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56962048	1.00[AMR][1000 genomes]
rs58321576	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59122326	1.00[AMR][1000 genomes]
rs59404652	1.00[AMR][1000 genomes]
rs6935941	1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap]
rs6940960	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36164400-36203000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36166200-36192200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr6:36166400-36173000	Genic enhancers	Dnd41	blood
4	chr6:36166400-36176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:36166400-36185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:36166600-36200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:36166800-36185200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:36166800-36201800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:36167000-36173000	Strong transcription	Fetal Kidney	kidney
10	chr6:36167000-36188000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:36167000-36201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:36167200-36201400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:36167400-36191600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:36167400-36201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:36167600-36172800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:36167600-36184000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:36167600-36199800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:36167600-36201200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:36167800-36188000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:36167800-36188400	Strong transcription	Osteobl	bone
21	chr6:36167800-36192000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:36167800-36201400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr6:36168000-36172400	Strong transcription	Brain Substantia Nigra	brain
24	chr6:36168000-36172800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:36168000-36176400	Strong transcription	NHEK	skin
26	chr6:36168000-36180200	Strong transcription	Aorta	Aorta
27	chr6:36168000-36180400	Strong transcription	NHLF	lung
28	chr6:36168000-36188000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:36168000-36188000	Strong transcription	HSMMtube	muscle
30	chr6:36168000-36190600	Strong transcription	HSMM	muscle
31	chr6:36168000-36191200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:36168000-36192400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:36168000-36196800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:36168000-36200400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr6:36168000-36201400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:36168200-36172600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:36168200-36173000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:36168200-36173800	Strong transcription	Left Ventricle	heart
39	chr6:36168200-36186000	Strong transcription	Right Ventricle	heart
40	chr6:36168200-36188200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:36168200-36188400	Strong transcription	Brain Anterior Caudate	brain
42	chr6:36168200-36188800	Strong transcription	HUVEC	blood vessel
43	chr6:36168200-36195400	Strong transcription	Placenta	Placenta
44	chr6:36168600-36180400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr6:36169200-36172800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:36169400-36173800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr6:36169400-36188000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr6:36169400-36201800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:36169600-36173000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:36169600-36176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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