Variant report

Variant	rs41277186
Chromosome Location	chr1:214776830-214776831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
2	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
ENSG00000250536	Chromatin interaction
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10494982	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11120362	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11120363	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11120364	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11487824	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11487873	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11487874	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11802860	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11804330	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11806558	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12067115	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12068412	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17023266	0.94[AFR][1000 genomes]
rs17736682	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17736783	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17792674	0.94[ASN][1000 genomes]
rs2362215	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35222159	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56756772	0.95[EUR][1000 genomes]
rs58019184	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58523012	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59120363	1.00[EUR][1000 genomes]
rs61445407	0.94[AFR][1000 genomes]
rs61732042	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs74140210	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214775600-214777000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:214775600-214777200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:214775600-214777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:214775600-214777800	Active TSS	A549	lung
5	chr1:214775800-214777000	Active TSS	Brain Germinal Matrix	brain
6	chr1:214775800-214777000	Active TSS	Colon Smooth Muscle	Colon
7	chr1:214775800-214777000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:214775800-214777000	Active TSS	Fetal Muscle Leg	muscle
9	chr1:214775800-214777000	Active TSS	Fetal Stomach	stomach
10	chr1:214775800-214777000	Active TSS	NHLF	lung
11	chr1:214775800-214777000	Active TSS	Osteobl	bone
12	chr1:214775800-214777200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:214775800-214777200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:214775800-214777200	Active TSS	Brain Anterior Caudate	brain
15	chr1:214775800-214777200	Active TSS	Brain Hippocampus Middle	brain
16	chr1:214775800-214777200	Active TSS	Fetal Brain Female	brain
17	chr1:214775800-214777200	Active TSS	Fetal Muscle Trunk	muscle
18	chr1:214775800-214777200	Active TSS	Ovary	ovary
19	chr1:214775800-214777200	Active TSS	Psoas Muscle	Psoas
20	chr1:214775800-214777200	Active TSS	Right Atrium	heart
21	chr1:214775800-214777200	Active TSS	NH-A	brain
22	chr1:214775800-214777400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:214775800-214777400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:214775800-214777400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:214775800-214777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:214775800-214777600	Active TSS	HSMMtube	muscle
27	chr1:214775800-214777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:214775800-214777800	Active TSS	Fetal Intestine Small	intestine
29	chr1:214775800-214777800	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:214775800-214777800	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:214775800-214778000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:214775800-214778000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:214775800-214778000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:214775800-214778000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:214775800-214778000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:214775800-214778200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:214775800-214778200	Active TSS	HSMM	muscle
38	chr1:214775800-214778600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:214775800-214778600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:214776000-214777000	Active TSS	Fetal Intestine Large	intestine
41	chr1:214776000-214777200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:214776000-214777200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:214776000-214777200	Active TSS	Aorta	Aorta
44	chr1:214776000-214777200	Flanking Active TSS	Liver	Liver
45	chr1:214776000-214777200	Active TSS	Fetal Brain Male	brain
46	chr1:214776000-214777200	Active TSS	Fetal Lung	lung
47	chr1:214776000-214777200	Active TSS	Fetal Thymus	thymus
48	chr1:214776000-214777400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:214776000-214777400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:214776000-214777600	Active TSS	Placenta Amnion	Placenta Amnion

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