Variant report

Variant	rs13030643
Chromosome Location	chr2:7128780-7128781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7126650..7129012-chr2:7161153..7163325,2	K562	blood:
2	chr2:7005206..7007392-chr2:7127892..7129455,2	K562	blood:

Variant related genes	Relation type
ENSG00000134326	Chromatin interaction
ENSG00000134321	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11676629	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11679967	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11689450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691419	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11695834	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12618219	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs13011206	0.87[ASN][1000 genomes]
rs13019196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035947	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177922	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1879058	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1964092	0.82[CEU][hapmap]
rs2460403	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460405	0.86[JPT][hapmap]
rs2460406	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309308	0.83[CEU][hapmap]
rs309313	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309315	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309321	0.86[JPT][hapmap]
rs309323	0.83[CEU][hapmap]
rs34429264	1.00[ASN][1000 genomes]
rs35505960	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367906	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs369808	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771993	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3771998	0.89[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs3772003	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs378548	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs381214	0.86[JPT][hapmap]
rs3821334	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388773	0.86[JPT][hapmap]
rs389351	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs403407	0.96[ASN][1000 genomes]
rs405503	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs415204	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418878	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs443852	0.86[JPT][hapmap]
rs445411	0.86[JPT][hapmap]
rs447721	0.86[JPT][hapmap]
rs6719946	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436170	1.00[ASN][1000 genomes]
rs73914451	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771267	0.86[JPT][hapmap]
rs881937	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
4	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
7	chr2:7121200-7130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
9	chr2:7121400-7129400	Weak transcription	Fetal Thymus	thymus
10	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
13	chr2:7123800-7131000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:7124000-7130800	Weak transcription	Fetal Brain Female	brain
16	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:7124200-7129600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:7126200-7132800	Strong transcription	Dnd41	blood
21	chr2:7126600-7130800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:7126600-7131000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:7126800-7131000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:7126800-7131200	Weak transcription	K562	blood
26	chr2:7126800-7132400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:7127000-7129200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:7127000-7130800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:7127000-7130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:7127200-7129600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:7127200-7130600	Strong transcription	Primary T cells from cord blood	blood
35	chr2:7127200-7130800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:7127400-7130800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:7127400-7132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:7127400-7132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:7127400-7133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:7127600-7129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:7127600-7129800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:7127600-7130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:7127600-7132200	Weak transcription	Fetal Brain Male	brain
45	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:7127600-7143600	Weak transcription	HepG2	liver
48	chr2:7127800-7129200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:7127800-7129600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:7127800-7130200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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