Variant report

Variant	rs72777317
Chromosome Location	chr2:10793790-10793791
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	chr2:10793213..10795237-chr2:10796183..10797720,2	K562	blood:
2	chr2:10785667..10787979-chr2:10791463..10794165,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72777328	0.80[AFR][1000 genomes]
rs759398	0.80[AFR][1000 genomes]

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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
3	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:10775000-10793800	Weak transcription	Stomach Mucosa	stomach
7	chr2:10775000-10794200	Weak transcription	HUVEC	blood vessel
8	chr2:10776200-10803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:10779400-10801400	Strong transcription	Primary T cells from cord blood	blood
10	chr2:10779600-10803600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:10780600-10800000	Weak transcription	Right Atrium	heart
13	chr2:10781600-10799800	Strong transcription	Liver	Liver
14	chr2:10781600-10800400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:10781800-10803000	Strong transcription	Adipose Nuclei	Adipose
16	chr2:10782000-10803200	Strong transcription	Dnd41	blood
17	chr2:10782200-10808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:10782600-10794400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:10784800-10803200	Strong transcription	A549	lung
20	chr2:10785800-10800200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:10786000-10800400	Strong transcription	HepG2	liver
22	chr2:10786000-10800600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:10786200-10800400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:10786200-10802800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:10786200-10803600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:10786600-10794200	Strong transcription	Hela-S3	cervix
28	chr2:10786600-10794600	Strong transcription	GM12878-XiMat	blood
29	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:10786800-10794000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:10786800-10794200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:10786800-10794400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:10786800-10794800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:10786800-10798400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:10786800-10803600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:10787000-10797400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:10787000-10803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:10787200-10794800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:10787200-10802600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:10787400-10794200	Strong transcription	HSMMtube	muscle
42	chr2:10787400-10794600	Strong transcription	Ovary	ovary
43	chr2:10787400-10797200	Strong transcription	Fetal Intestine Large	intestine
44	chr2:10787400-10797600	Strong transcription	Fetal Intestine Small	intestine
45	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
46	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
47	chr2:10787600-10795400	Strong transcription	Spleen	Spleen
48	chr2:10787600-10800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:10787800-10794800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:10788000-10794400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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