Variant report

Variant	rs269269
Chromosome Location	chr1:70664602-70664603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70661362..70665473-chr1:70669237..70671298,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs269270	1.00[AFR][1000 genomes]
rs269275	1.00[YRI][hapmap]
rs269279	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs269281	0.86[AFR][1000 genomes]
rs269282	1.00[YRI][hapmap]

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	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
2	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
3	chr1:70610000-70667800	Weak transcription	HepG2	liver
4	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
7	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
8	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:70615000-70670000	Weak transcription	NH-A	brain
10	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:70634000-70670400	Weak transcription	Lung	lung
13	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
14	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
15	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
16	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
17	chr1:70644000-70668600	Weak transcription	Ovary	ovary
18	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:70644800-70669800	Weak transcription	HSMM	muscle
20	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:70649600-70668600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:70649600-70668600	Weak transcription	Left Ventricle	heart
23	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:70650400-70668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:70650600-70669400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:70650600-70669800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:70650600-70670200	Weak transcription	Fetal Thymus	thymus
32	chr1:70650800-70668400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:70651000-70667000	Weak transcription	Dnd41	blood
34	chr1:70651000-70668600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:70651400-70668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:70651600-70668000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:70651600-70669400	Weak transcription	Hela-S3	cervix
38	chr1:70651600-70669600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:70651600-70669800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:70651800-70668600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:70651800-70668600	Weak transcription	Primary B cells from cord blood	blood
42	chr1:70651800-70669200	Weak transcription	Primary T cells from cord blood	blood
43	chr1:70651800-70670400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:70652200-70669200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:70653000-70669400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:70653600-70669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:70655000-70669200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:70655600-70669000	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:70656400-70669600	Weak transcription	NHEK	skin
50	chr1:70657000-70669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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