Variant report

Variant	rs6719946
Chromosome Location	chr2:7131853-7131854
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	chr2:7130628..7133079-chr2:7138526..7140206,2	MCF-7	breast:
2	chr2:7131290..7134151-chr2:7135559..7137414,2	K562	blood:

Variant related genes	Relation type
ENSG00000151692	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11676629	0.87[ASN][1000 genomes]
rs11679967	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11689450	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691419	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11695834	0.83[ASN][1000 genomes]
rs12618219	0.87[ASN][1000 genomes]
rs13011206	0.87[ASN][1000 genomes]
rs13019196	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030643	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035947	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177922	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1879058	0.87[ASN][1000 genomes]
rs2460403	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460406	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309313	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309315	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34429264	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35505960	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367906	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs368831	0.80[EUR][1000 genomes]
rs369808	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755511	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771993	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3771998	0.87[ASN][1000 genomes]
rs3772003	0.87[ASN][1000 genomes]
rs378548	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821334	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821335	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389351	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs403407	0.96[ASN][1000 genomes]
rs405503	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs415204	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418878	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71436170	1.00[ASN][1000 genomes]
rs73914451	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881937	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
6	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
8	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:7126200-7132800	Strong transcription	Dnd41	blood
13	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:7126800-7132400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:7127400-7132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:7127400-7132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:7127400-7133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:7127600-7132200	Weak transcription	Fetal Brain Male	brain
23	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:7127600-7143600	Weak transcription	HepG2	liver
26	chr2:7127800-7132000	Weak transcription	Psoas Muscle	Psoas
27	chr2:7127800-7132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:7127800-7132400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:7128000-7132000	Weak transcription	Fetal Heart	heart
30	chr2:7128000-7132000	Weak transcription	Right Atrium	heart
31	chr2:7128000-7132000	Weak transcription	Right Ventricle	heart
32	chr2:7128000-7132000	Weak transcription	HUVEC	blood vessel
33	chr2:7128000-7132200	Weak transcription	Left Ventricle	heart
34	chr2:7128000-7132200	Weak transcription	Lung	lung
35	chr2:7128400-7132400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:7128400-7132600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:7129000-7132600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:7129600-7132200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:7130400-7132200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:7130400-7132200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:7131200-7133000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:7131200-7133000	Genic enhancers	Brain Anterior Caudate	brain
44	chr2:7131200-7141000	Strong transcription	Primary T cells from cord blood	blood
45	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:7131400-7132200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:7131400-7132200	Strong transcription	Fetal Kidney	kidney
48	chr2:7131400-7132400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:7131400-7132600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:7131400-7132600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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