Variant report

Variant	rs72640311
Chromosome Location	chr1:10365955-10365956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10364625..10366634-chr1:10534316..10536742,2	K562	blood:

Variant related genes	Relation type
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55792417	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72640309	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:10347800-10366800	Strong transcription	HSMM	muscle
7	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
9	chr1:10352000-10366800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:10352600-10366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:10355000-10366000	Strong transcription	Liver	Liver
14	chr1:10356600-10368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:10356800-10367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:10356800-10368000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:10357200-10368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
19	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
20	chr1:10358000-10367000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:10358000-10367800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:10358200-10367000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:10358400-10369400	Weak transcription	Psoas Muscle	Psoas
25	chr1:10358600-10366200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
27	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:10360000-10366200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
30	chr1:10360400-10366200	Strong transcription	NHDF-Ad	bronchial
31	chr1:10361200-10366400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:10361600-10366400	Strong transcription	Adipose Nuclei	Adipose
33	chr1:10361800-10366000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:10361800-10366000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:10361800-10366200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:10361800-10366200	Strong transcription	HepG2	liver
37	chr1:10361800-10366600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:10362000-10366400	Strong transcription	HUVEC	blood vessel
40	chr1:10362000-10366800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:10362400-10366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:10362400-10366000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:10362400-10366200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:10362400-10366200	Strong transcription	Brain Germinal Matrix	brain
45	chr1:10362400-10366400	Strong transcription	HSMMtube	muscle
46	chr1:10362400-10366800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:10362600-10366400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:10362600-10366800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:10362600-10366800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:10362600-10366800	Strong transcription	Fetal Intestine Large	intestine

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