Variant report

Variant	rs6687845
Chromosome Location	chr1:56915223-56915224
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	chr1:56899641..56901431-chr1:56912878..56915864,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10888973	0.85[EUR][1000 genomes]
rs11206812	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11206813	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11206820	0.86[EUR][1000 genomes]
rs11206821	0.84[EUR][1000 genomes]
rs11206822	0.91[EUR][1000 genomes]
rs11206826	0.86[EUR][1000 genomes]
rs12128107	0.91[EUR][1000 genomes]
rs12138516	0.80[EUR][1000 genomes]
rs12140958	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12736058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739002	0.80[EUR][1000 genomes]
rs12755498	0.91[EUR][1000 genomes]
rs12755655	0.91[EUR][1000 genomes]
rs2780866	0.94[EUR][1000 genomes]
rs2780869	0.85[EUR][1000 genomes]
rs4128921	0.82[EUR][1000 genomes]
rs4628	0.87[TSI][hapmap]
rs6672624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676745	0.92[EUR][1000 genomes]
rs6682251	0.95[EUR][1000 genomes]
rs6698812	0.81[EUR][1000 genomes]
rs7418187	0.81[EUR][1000 genomes]
rs7522127	0.95[EUR][1000 genomes]
rs7539463	0.95[EUR][1000 genomes]
rs9803856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9803955	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:56909200-56915800	Enhancers	HepG2	liver
4	chr1:56910000-56916200	Enhancers	Liver	Liver
5	chr1:56912000-56916200	Enhancers	Right Atrium	heart
6	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
7	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:56912000-56916600	Enhancers	Left Ventricle	heart
9	chr1:56912400-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:56912600-56915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:56912800-56915400	Weak transcription	Esophagus	oesophagus
12	chr1:56912800-56915600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:56912800-56915800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:56912800-56915800	Weak transcription	Ovary	ovary
15	chr1:56912800-56918600	Weak transcription	Fetal Heart	heart
16	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
18	chr1:56913000-56915400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:56913000-56916000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:56913200-56917400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:56913400-56915800	Weak transcription	Fetal Stomach	stomach
22	chr1:56913600-56917000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:56913800-56915400	Weak transcription	Fetal Thymus	thymus
24	chr1:56913800-56917000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:56913800-56917200	Weak transcription	Small Intestine	intestine
26	chr1:56913800-56917400	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
28	chr1:56914200-56916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:56914200-56916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:56914200-56916200	Enhancers	Lung	lung
31	chr1:56914200-56916200	Enhancers	Psoas Muscle	Psoas
32	chr1:56914200-56916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:56914200-56917400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:56914200-56919800	Enhancers	Fetal Intestine Small	intestine
35	chr1:56914400-56919600	Enhancers	Fetal Intestine Large	intestine
36	chr1:56914600-56917800	Weak transcription	Fetal Kidney	kidney
37	chr1:56914600-56919800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:56914800-56916000	Enhancers	A549	lung
39	chr1:56914800-56916200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:56914800-56916200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:56914800-56916200	Enhancers	Right Ventricle	heart
42	chr1:56914800-56916400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:56914800-56916400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:56914800-56916600	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:56914800-56916600	Enhancers	Fetal Muscle Leg	muscle
46	chr1:56914800-56917200	Weak transcription	Fetal Lung	lung
47	chr1:56915000-56915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:56915000-56915400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:56915000-56915800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:56915000-56917200	Weak transcription	Pancreas	Pancrea

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