Variant report

Variant	rs34439966
Chromosome Location	chr2:10485771-10485772
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	chr2:10485468..10487485-chr2:10489462..10491508,2	K562	blood:

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

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

rs_ID	r²[population]
rs13004177	0.80[ASN][1000 genomes]
rs1819825	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
3	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
6	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
9	chr2:10475800-10486200	Weak transcription	HSMMtube	muscle
10	chr2:10476400-10488600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:10478800-10488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:10479200-10486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:10479200-10487600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:10480400-10486200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:10480600-10487200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:10480600-10488200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:10480800-10487600	Enhancers	A549	lung
18	chr2:10481400-10487400	Weak transcription	NHEK	skin
19	chr2:10481800-10486000	Weak transcription	Spleen	Spleen
20	chr2:10481800-10491400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:10482400-10488000	Enhancers	Pancreas	Pancrea
22	chr2:10483000-10486000	Weak transcription	Left Ventricle	heart
23	chr2:10483000-10488000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:10483000-10488200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:10483000-10488800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:10483200-10486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10483200-10486200	Weak transcription	Right Ventricle	heart
28	chr2:10483200-10486800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:10483200-10487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:10483200-10488000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:10483200-10488000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:10483200-10488400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:10483400-10488000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:10483400-10489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:10483600-10485800	Enhancers	Placenta	Placenta
36	chr2:10483600-10486000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:10483600-10486600	Enhancers	Brain Substantia Nigra	brain
38	chr2:10483600-10486800	Enhancers	HepG2	liver
39	chr2:10483600-10488000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:10483800-10485800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:10484000-10486200	Weak transcription	Ovary	ovary
42	chr2:10484000-10487800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:10484000-10488200	Enhancers	K562	blood
44	chr2:10484200-10486200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:10484200-10487400	Weak transcription	Psoas Muscle	Psoas
46	chr2:10484400-10486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10484400-10486600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:10484600-10486000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:10484600-10486000	Enhancers	Primary T cells from cord blood	blood
50	chr2:10484600-10486000	Weak transcription	Primary T cells fromperipheralblood	blood

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