Variant report

Variant	rs220023
Chromosome Location	chr6:12154037-12154038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12151617..12154560-chr6:12159442..12161987,2	MCF-7	breast:
2	chr6:12151752..12154579-chr6:12162803..12165024,2	K562	blood:
3	chr6:12147758..12151335-chr6:12153280..12156085,3	K562	blood:

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

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

rs_ID	r²[population]
rs220020	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7747683	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470959	0.89[YRI][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	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:12137000-12163600	Weak transcription	Small Intestine	intestine
3	chr6:12139000-12154200	Weak transcription	Right Atrium	heart
4	chr6:12139000-12161600	Weak transcription	HepG2	liver
5	chr6:12140000-12154600	Weak transcription	Right Ventricle	heart
6	chr6:12140200-12161800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:12140600-12155400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:12140600-12158400	Weak transcription	Aorta	Aorta
9	chr6:12140600-12158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:12140600-12158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:12140600-12161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:12140600-12161400	Weak transcription	Pancreas	Pancrea
13	chr6:12140600-12161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:12140600-12161400	Weak transcription	Spleen	Spleen
15	chr6:12140600-12161600	Weak transcription	Esophagus	oesophagus
16	chr6:12140600-12161800	Weak transcription	Gastric	stomach
17	chr6:12140600-12163600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:12140600-12163600	Weak transcription	Psoas Muscle	Psoas
19	chr6:12140600-12163800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:12140800-12154600	Weak transcription	Liver	Liver
21	chr6:12140800-12155400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:12140800-12156200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:12140800-12158600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:12140800-12158800	Weak transcription	Fetal Stomach	stomach
25	chr6:12140800-12160400	Weak transcription	Primary B cells from cord blood	blood
26	chr6:12140800-12160400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:12140800-12160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:12140800-12161000	Weak transcription	Adipose Nuclei	Adipose
29	chr6:12140800-12161400	Weak transcription	Thymus	Thymus
30	chr6:12140800-12161600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:12140800-12161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:12140800-12161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:12140800-12161800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:12140800-12161800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:12140800-12162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:12141000-12155400	Weak transcription	Fetal Intestine Small	intestine
37	chr6:12141000-12158600	Weak transcription	Fetal Kidney	kidney
38	chr6:12141000-12161600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:12141000-12161600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:12141000-12161800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:12141200-12154400	Weak transcription	Fetal Lung	lung
42	chr6:12141200-12154600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:12141200-12162400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:12141800-12155400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:12141800-12161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:12148000-12161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:12148800-12158800	Weak transcription	Lung	lung
48	chr6:12148800-12161400	Weak transcription	Left Ventricle	heart
49	chr6:12149400-12154200	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:12149400-12159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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