Variant report

Variant	rs569149270
Chromosome Location	chr1:70650847-70650848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70645372..70647137-chr1:70649997..70652208,2	K562	blood:

Variant related genes	Relation type
ENSG00000244389	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3368126	chr1:70650840-70651235	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 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	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
5	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
6	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
10	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
11	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:70610000-70667800	Weak transcription	HepG2	liver
14	chr1:70610400-70653600	Weak transcription	Gastric	stomach
15	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
18	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
19	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
20	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:70614400-70651000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
26	chr1:70615000-70670000	Weak transcription	NH-A	brain
27	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:70622600-70651400	Weak transcription	HMEC	breast
29	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:70623000-70661600	Weak transcription	K562	blood
31	chr1:70623200-70652000	Weak transcription	Osteobl	bone
32	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:70632600-70656800	Weak transcription	NHLF	lung
34	chr1:70634000-70670400	Weak transcription	Lung	lung
35	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
36	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
37	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:70634800-70651000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
40	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
41	chr1:70637600-70651800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
44	chr1:70640600-70654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:70641400-70652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:70643000-70652000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:70643600-70652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
50	chr1:70643800-70653000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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