Variant report

Variant	rs1867376
Chromosome Location	chr1:211785564-211785565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:
2	chr1:211785288..211788085-chr1:212796796..212799464,2	K562	blood:
3	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
4	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
5	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
6	chr1:211784999..211786549-chr1:211812192..211813764,2	K562	blood:
7	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
8	chr1:211757578..211759628-chr1:211782776..211785565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227764	Chromatin interaction
ENSG00000261314	Chromatin interaction
ENSG00000162771	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1123527	1.00[ASN][1000 genomes]
rs11799776	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11804725	0.85[MEX][hapmap]
rs12742934	1.00[ASN][1000 genomes]
rs13376262	0.85[MEX][hapmap]
rs2027225	1.00[ASN][1000 genomes]
rs34550869	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4951417	0.85[MEX][hapmap]
rs55960543	1.00[ASN][1000 genomes]
rs56320548	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684175	1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6694934	1.00[ASN][1000 genomes]
rs676520	1.00[CHB][hapmap]
rs726986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs745496	1.00[ASN][1000 genomes]
rs7536267	1.00[CHB][hapmap]
rs7548952	1.00[ASN][1000 genomes]
rs7550089	1.00[CHB][hapmap]
rs894856	1.00[CHB][hapmap]
rs9429874	1.00[ASN][1000 genomes]
rs9429875	1.00[CHB][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs9430072	1.00[ASN][1000 genomes]
rs9430073	1.00[CHB][hapmap]
rs9430074	1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9430075	1.00[CHB][hapmap]
rs9430077	1.00[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:211777200-211786200	Weak transcription	NHLF	lung
4	chr1:211780800-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:211781000-211786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:211781200-211786200	Enhancers	K562	blood
7	chr1:211781400-211786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:211781800-211786400	Weak transcription	Stomach Mucosa	stomach
10	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
11	chr1:211782000-211786600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:211782000-211786600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:211782200-211787400	Weak transcription	Small Intestine	intestine
14	chr1:211782600-211786200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:211782600-211786200	Enhancers	Hela-S3	cervix
16	chr1:211782600-211786200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:211782800-211785600	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:211782800-211787400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:211783000-211786200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:211783000-211786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:211783800-211786600	Weak transcription	Gastric	stomach
22	chr1:211784000-211785600	Enhancers	Adipose Nuclei	Adipose
23	chr1:211784000-211787000	Enhancers	Colon Smooth Muscle	Colon
24	chr1:211784000-211787800	Enhancers	Fetal Muscle Leg	muscle
25	chr1:211784000-211788400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:211784200-211785600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:211784200-211785600	Enhancers	Brain Anterior Caudate	brain
28	chr1:211784200-211785600	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:211784200-211785600	Enhancers	Fetal Thymus	thymus
30	chr1:211784200-211787000	Enhancers	Spleen	Spleen
31	chr1:211784200-211789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:211784400-211785600	Enhancers	Left Ventricle	heart
33	chr1:211784400-211786400	Enhancers	A549	lung
34	chr1:211784400-211787400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:211784400-211787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:211784400-211788400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:211784600-211786200	Weak transcription	HMEC	breast
38	chr1:211784600-211786200	Weak transcription	NH-A	brain
39	chr1:211784600-211786400	Weak transcription	Osteobl	bone
40	chr1:211784600-211789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:211784800-211785600	Enhancers	Colonic Mucosa	Colon
42	chr1:211784800-211785600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:211784800-211785600	Enhancers	Esophagus	oesophagus
44	chr1:211784800-211786200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:211784800-211786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:211784800-211786600	Weak transcription	Fetal Heart	heart
47	chr1:211784800-211788400	Enhancers	Placenta	Placenta
48	chr1:211785000-211785600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:211785000-211786000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:211785000-211786200	Weak transcription	Pancreas	Pancrea

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