Variant report

Variant	rs478767
Chromosome Location	chr6:149650100-149650101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149648554..149650974-chr6:149651371..149654134,3	K562	blood:
2	chr6:149636994..149642058-chr6:149649092..149655125,9	MCF-7	breast:
3	chr6:149649733..149652455-chr6:149658613..149661110,2	K562	blood:
4	chr6:149642865..149645034-chr6:149649169..149650874,2	MCF-7	breast:
5	chr6:149644563..149647339-chr6:149647427..149650792,4	K562	blood:
6	chr6:149646598..149650161-chr6:149650268..149655691,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs17086451	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2143076	0.87[JPT][hapmap]
rs2341783	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744428	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744431	0.80[EUR][1000 genomes]
rs2744433	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2744434	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789487	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789488	0.87[JPT][hapmap]
rs2789489	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789490	0.81[CEU][hapmap];0.92[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2789500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3734296	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360154	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs472620	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472810	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs474369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478531	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs480526	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480778	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs481769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897117	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs490529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494340	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs501926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504985	0.87[JPT][hapmap]
rs506268	0.82[JPT][hapmap]
rs511105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513923	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514839	0.87[JPT][hapmap]
rs515133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs518879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs521845	0.87[JPT][hapmap]
rs522646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs527971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs532008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs532250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs536203	0.87[JPT][hapmap]
rs537354	0.87[JPT][hapmap]
rs538386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs540538	0.87[JPT][hapmap]
rs554926	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs559052	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560051	0.87[JPT][hapmap]
rs562428	0.87[JPT][hapmap]
rs564405	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs565825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs577001	0.87[JPT][hapmap]
rs579789	0.87[JPT][hapmap]
rs588028	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60006373	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs600739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs630642	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs638407	0.87[JPT][hapmap]
rs641068	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs652514	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs652807	0.87[JPT][hapmap]
rs652921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6570965	0.87[JPT][hapmap]
rs663625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674919	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs681919	0.84[EUR][1000 genomes]
rs909793	0.87[JPT][hapmap]
rs92605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285519	0.87[JPT][hapmap]
rs9322178	0.87[JPT][hapmap]
rs9373589	0.87[JPT][hapmap]
rs9373591	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377216	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9377217	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9377218	0.92[JPT][hapmap]
rs9390676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390677	0.87[JPT][hapmap]
rs9399686	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9404032	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9404034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9404035	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404037	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149640200-149655400	Weak transcription	Esophagus	oesophagus
2	chr6:149640200-149655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:149640800-149652800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:149640800-149653200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:149641200-149657400	Weak transcription	Aorta	Aorta
6	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
7	chr6:149641400-149655600	Weak transcription	Placenta	Placenta
8	chr6:149641600-149652600	Weak transcription	Brain Germinal Matrix	brain
9	chr6:149641600-149656000	Weak transcription	Lung	lung
10	chr6:149641600-149660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:149641800-149660200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:149642200-149652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:149642400-149650200	Weak transcription	Primary B cells from cord blood	blood
14	chr6:149642400-149652600	Weak transcription	NH-A	brain
15	chr6:149642400-149652600	Weak transcription	NHLF	lung
16	chr6:149642600-149652600	Weak transcription	NHDF-Ad	bronchial
17	chr6:149642600-149657200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:149642800-149650400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:149643000-149653400	Weak transcription	HSMM	muscle
20	chr6:149643400-149652200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:149645000-149666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:149645600-149652600	Weak transcription	Osteobl	bone
23	chr6:149645800-149651800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:149645800-149651800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:149645800-149652800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:149646000-149651400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:149646000-149652600	Weak transcription	HMEC	breast
28	chr6:149646200-149650400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:149646200-149650400	Weak transcription	Fetal Thymus	thymus
30	chr6:149646200-149653400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:149646200-149654400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:149646200-149657400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:149646400-149652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:149646400-149652600	Weak transcription	Adipose Nuclei	Adipose
35	chr6:149646400-149652600	Weak transcription	Fetal Lung	lung
36	chr6:149646600-149652800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:149646800-149652400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:149647000-149653000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:149647200-149650200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:149647200-149650400	Weak transcription	Stomach Mucosa	stomach
41	chr6:149647200-149651400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:149647200-149653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:149647200-149654400	Weak transcription	Ovary	ovary
44	chr6:149647200-149655400	Weak transcription	Pancreas	Pancrea
45	chr6:149647800-149650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:149647800-149651600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:149648400-149650600	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:149648400-149652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:149648400-149660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:149648600-149650800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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