Variant report

Variant	rs6730889
Chromosome Location	chr2:36704129-36704130
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36704034-36704884	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:36703577-36707125	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:36703930-36705277	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr2:36703523-36708264	HUVEC	blood vessel:	n/a	n/a
5	MYC	chr2:36704125-36704197	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:36704095-36704332	ProgFib	skin:	n/a	n/a
7	POLR2A	chr2:36703880-36707069	SK-N-SH	brain:	n/a	n/a
8	TCF7L2	chr2:36703609-36704169	PANC-1	pancreas:	n/a	chr2:36703967-36703981 chr2:36703970-36703979 chr2:36703968-36703978 chr2:36703966-36703982 chr2:36703969-36703978 chr2:36703966-36703982
9	POLR2A	chr2:36704046-36704243	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:
2	chr2:36701832..36704492-chr2:36708241..36710615,2	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17018663	1.00[ASN][1000 genomes]
rs17018867	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17019128	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36688400-36704200	Weak transcription	Spleen	Spleen
3	chr2:36688400-36704400	Weak transcription	Colonic Mucosa	Colon
4	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
5	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
6	chr2:36691000-36704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:36693000-36704400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:36693000-36704400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:36694800-36704200	Weak transcription	Fetal Brain Male	brain
10	chr2:36695800-36704400	Weak transcription	Esophagus	oesophagus
11	chr2:36696400-36704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:36696800-36704200	Weak transcription	Fetal Kidney	kidney
13	chr2:36697000-36704200	Weak transcription	Fetal Heart	heart
14	chr2:36698600-36705200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:36699000-36704400	ZNF genes & repeats	A549	lung
16	chr2:36699000-36704800	ZNF genes & repeats	NHEK	skin
17	chr2:36699400-36704400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:36699600-36705000	ZNF genes & repeats	HMEC	breast
19	chr2:36699800-36704200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:36700400-36704400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:36700600-36704400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:36700600-36704600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:36701000-36704200	ZNF genes & repeats	HSMM	muscle
24	chr2:36701000-36704600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:36701000-36705400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:36701400-36704200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr2:36702000-36709000	Strong transcription	Hela-S3	cervix
28	chr2:36702200-36704200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr2:36702200-36704200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:36702400-36712000	Genic enhancers	HUVEC	blood vessel
31	chr2:36702600-36705200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr2:36702800-36705000	ZNF genes & repeats	NHLF	lung
33	chr2:36703000-36704200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:36703000-36704200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:36703200-36704200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:36703200-36704400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:36703200-36707400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:36703200-36709400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:36703200-36710600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:36703200-36712600	Genic enhancers	Osteobl	bone
41	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:36703400-36704200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:36703400-36704200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:36703400-36704400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:36703400-36706600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:36703400-36710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:36703400-36712000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:36703400-36712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:36703600-36705000	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:36703600-36705200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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