Variant report

Variant	rs334711
Chromosome Location	chr1:61625310-61625311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
2	chr1:61623244..61625857-chr1:61628268..61629973,2	MCF-7	breast:
3	chr1:61620892..61622507-chr1:61624479..61626051,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10493302	0.86[MEX][hapmap]
rs168022	1.00[CEU][hapmap]
rs334701	0.85[CEU][hapmap]
rs334707	0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334708	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs334712	0.85[CEU][hapmap]
rs334717	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs334720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334722	1.00[CEU][hapmap]
rs6670604	0.86[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008634	chr1:61613785-61671468	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61612000-61635800	Weak transcription	Lung	lung
3	chr1:61612800-61626200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:61615400-61635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:61615400-61635600	Weak transcription	Hela-S3	cervix
6	chr1:61616000-61628000	Weak transcription	Gastric	stomach
7	chr1:61617000-61627800	Weak transcription	Esophagus	oesophagus
8	chr1:61618000-61628000	Weak transcription	Pancreas	Pancrea
9	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:61621800-61626000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:61621800-61630000	Enhancers	Fetal Heart	heart
12	chr1:61622000-61625400	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:61622200-61625400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:61622400-61625600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:61622800-61635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:61622800-61635800	Weak transcription	HUVEC	blood vessel
17	chr1:61623200-61628000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:61623400-61627000	Weak transcription	Psoas Muscle	Psoas
19	chr1:61623400-61629200	Weak transcription	Brain Germinal Matrix	brain
20	chr1:61623400-61635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:61623600-61625600	Weak transcription	NHEK	skin
22	chr1:61623600-61625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:61623600-61625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:61623600-61626000	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:61623600-61627200	Weak transcription	Left Ventricle	heart
26	chr1:61623600-61627200	Weak transcription	Right Atrium	heart
27	chr1:61623600-61627800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:61623600-61629400	Weak transcription	Small Intestine	intestine
29	chr1:61623600-61635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:61623600-61635800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:61623800-61626000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:61623800-61626000	Weak transcription	HMEC	breast
33	chr1:61623800-61635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:61624000-61625800	Weak transcription	Osteobl	bone
35	chr1:61624000-61634600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:61624000-61636000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:61624200-61627200	Enhancers	Brain Anterior Caudate	brain
38	chr1:61624200-61628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:61624400-61627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:61624400-61628800	Weak transcription	NHLF	lung
41	chr1:61624400-61629200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:61624400-61634600	Weak transcription	A549	lung
43	chr1:61624600-61625800	Weak transcription	HepG2	liver
44	chr1:61624600-61626000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:61624600-61626000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:61624600-61628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:61624600-61628800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:61624600-61635800	Weak transcription	Fetal Intestine Large	intestine
49	chr1:61624600-61635800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:61624600-61650400	Weak transcription	Primary hematopoietic stem cells	blood

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