Variant report

Variant	rs4308981
Chromosome Location	chr1:151783697-151783698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151782530..151784073-chr1:151786913..151788709,2	MCF-7	breast:
2	chr1:151512189..151513812-chr1:151782717..151784930,2	MCF-7	breast:
3	chr1:151782426..151784318-chr1:151786868..151789342,2	MCF-7	breast:
4	chr1:151781556..151784373-chr1:151812437..151814375,2	MCF-7	breast:
5	chr1:151771040..151773951-chr1:151782694..151784484,3	K562	blood:
6	chr1:151782043..151784964-chr1:151791094..151793186,2	K562	blood:
7	chr1:151782377..151784450-chr1:151790300..151792878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201134	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11204883	1.00[LWK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs11204889	0.87[AFR][1000 genomes]
rs12066062	0.91[LWK][hapmap];0.80[YRI][hapmap]
rs12067532	1.00[LWK][hapmap]
rs12069509	0.80[YRI][hapmap]
rs12071974	1.00[LWK][hapmap];0.81[AFR][1000 genomes]
rs12071996	0.80[YRI][hapmap]
rs12077740	0.91[LWK][hapmap];0.80[YRI][hapmap]
rs12079888	0.91[LWK][hapmap];0.80[YRI][hapmap]
rs12090093	0.80[YRI][hapmap]
rs12091920	0.91[LWK][hapmap];0.80[YRI][hapmap]
rs12097336	1.00[LWK][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes]
rs12097746	0.80[YRI][hapmap]
rs1937356	1.00[LWK][hapmap];0.80[YRI][hapmap]
rs2008633	0.80[YRI][hapmap]
rs59245141	1.00[AFR][1000 genomes]
rs59917650	1.00[AFR][1000 genomes]
rs6701792	0.89[YRI][hapmap]
rs73009617	0.91[AFR][1000 genomes]
rs7546811	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
2	chr1:151764200-151792800	Weak transcription	Lung	lung
3	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:151765400-151784200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151773200-151784800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:151773400-151784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:151773400-151785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:151776600-151787200	Weak transcription	Spleen	Spleen
11	chr1:151778400-151786000	Strong transcription	Thymus	Thymus
12	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
13	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:151778800-151789200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:151779000-151787000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:151779200-151783800	Strong transcription	Liver	Liver
18	chr1:151779400-151784200	Enhancers	Brain Hippocampus Middle	brain
19	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
20	chr1:151780200-151785400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:151780200-151786800	Weak transcription	Gastric	stomach
22	chr1:151780800-151785400	Weak transcription	Dnd41	blood
23	chr1:151780800-151786600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:151781000-151786000	Strong transcription	Fetal Thymus	thymus
25	chr1:151781600-151784000	Enhancers	Brain Substantia Nigra	brain
26	chr1:151781600-151784200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:151781800-151787600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:151781800-151788400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:151782000-151791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:151782200-151784000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:151782200-151789000	Weak transcription	Esophagus	oesophagus
32	chr1:151782600-151787000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:151782800-151786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:151782800-151790400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:151783000-151784000	Weak transcription	Placenta	Placenta
36	chr1:151783200-151783800	Weak transcription	Brain Anterior Caudate	brain
37	chr1:151783400-151784200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:151783400-151784400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:151783400-151784600	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:151783600-151783800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:151783600-151783800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:151783600-151783800	Enhancers	Brain Angular Gyrus	brain
43	chr1:151783600-151783800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:151783600-151783800	Enhancers	Psoas Muscle	Psoas
45	chr1:151783600-151784000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:151783600-151784000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:151783600-151784000	Enhancers	Adipose Nuclei	Adipose
48	chr1:151783600-151784000	Flanking Active TSS	HSMM	muscle
49	chr1:151783600-151784000	Flanking Active TSS	HSMMtube	muscle
50	chr1:151783600-151784400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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