Variant report

Variant	rs334712
Chromosome Location	chr1:61622755-61622756
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	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
2	chr1:61622127..61624762-chr1:61628255..61629757,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs168022	0.85[CEU][hapmap]
rs334698	0.82[CEU][hapmap]
rs334699	0.82[CEU][hapmap]
rs334701	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs334702	0.90[EUR][1000 genomes]
rs334703	0.82[CEU][hapmap]
rs334704	0.82[CEU][hapmap]
rs334708	1.00[CEU][hapmap]
rs334711	0.85[CEU][hapmap]
rs334713	0.82[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs334716	0.82[CEU][hapmap]
rs334717	0.85[CEU][hapmap]
rs334720	0.85[CEU][hapmap]
rs334722	0.87[CEU][hapmap]
rs334723	0.82[CEU][hapmap]
rs334724	0.81[EUR][1000 genomes]
rs334725	0.82[CEU][hapmap]
rs334728	0.82[CEU][hapmap]
rs334732	0.85[CEU][hapmap]
rs382704	0.85[CEU][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
2	chr1:61609600-61622800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:61610000-61623400	Weak transcription	Fetal Brain Female	brain
4	chr1:61610200-61623200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:61612000-61635800	Weak transcription	Lung	lung
6	chr1:61612800-61626200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:61615400-61635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:61615400-61635600	Weak transcription	Hela-S3	cervix
9	chr1:61616000-61628000	Weak transcription	Gastric	stomach
10	chr1:61616800-61623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:61617000-61627800	Weak transcription	Esophagus	oesophagus
12	chr1:61618000-61628000	Weak transcription	Pancreas	Pancrea
13	chr1:61618600-61623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:61618800-61623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:61618800-61623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:61619200-61649000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:61619800-61623000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:61621400-61624600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:61621400-61625200	Enhancers	Liver	Liver
20	chr1:61621600-61623400	Enhancers	Psoas Muscle	Psoas
21	chr1:61621600-61623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:61621600-61623600	Enhancers	Small Intestine	intestine
23	chr1:61621600-61625000	Enhancers	Fetal Stomach	stomach
24	chr1:61621800-61623200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:61621800-61623400	Enhancers	Fetal Brain Male	brain
26	chr1:61621800-61623600	Enhancers	K562	blood
27	chr1:61621800-61623800	Enhancers	Brain Anterior Caudate	brain
28	chr1:61621800-61624000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:61621800-61625200	Enhancers	Brain Hippocampus Middle	brain
30	chr1:61621800-61626000	Enhancers	Colon Smooth Muscle	Colon
31	chr1:61621800-61630000	Enhancers	Fetal Heart	heart
32	chr1:61622000-61623400	Enhancers	Ovary	ovary
33	chr1:61622000-61623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:61622000-61623800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:61622000-61624400	Enhancers	Brain Substantia Nigra	brain
36	chr1:61622000-61624600	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:61622000-61624600	Enhancers	Fetal Kidney	kidney
38	chr1:61622000-61624800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:61622000-61625200	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:61622000-61625200	Enhancers	Fetal Lung	lung
41	chr1:61622000-61625200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:61622000-61625400	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:61622200-61622800	Enhancers	Placenta	Placenta
44	chr1:61622200-61622800	Enhancers	Right Ventricle	heart
45	chr1:61622200-61623000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:61622200-61623000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:61622200-61623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:61622200-61623200	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:61622200-61623400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:61622200-61623800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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