Variant report

Variant	rs4949788
Chromosome Location	chr1:77750699-77750700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77742540..77744145-chr1:77750069..77752259,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11162307	0.82[EUR][1000 genomes]
rs11584919	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap]
rs11590456	1.00[CHB][hapmap]
rs1167202	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1167212	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs12077763	1.00[CHD][hapmap]
rs12119637	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12120921	1.00[CHD][hapmap]
rs12124822	1.00[CHB][hapmap]
rs12125503	1.00[CHB][hapmap]
rs12126117	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12128049	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs12130590	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12132273	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap]
rs12132703	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12133976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135530	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135843	1.00[CHB][hapmap]
rs12136415	1.00[CHB][hapmap]
rs12141929	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap]
rs1377737	1.00[CHB][hapmap]
rs1453981	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap]
rs17098287	1.00[CHB][hapmap]
rs17100458	1.00[CHB][hapmap]
rs17100463	1.00[CHB][hapmap]
rs17100476	1.00[CHB][hapmap]
rs4949773	1.00[CHD][hapmap]
rs4949791	1.00[ASN][1000 genomes]
rs4949794	1.00[CHB][hapmap]
rs72677862	1.00[ASN][1000 genomes]
rs72677864	1.00[ASN][1000 genomes]
rs7546963	1.00[CHB][hapmap]
rs7550325	1.00[CHD][hapmap]

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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77747200-77751000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77749000-77750800	Active TSS	Brain Anterior Caudate	brain
3	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:77749200-77754800	Weak transcription	HSMMtube	muscle
5	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:77749400-77750800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:77749400-77751200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:77749400-77751400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77749400-77752600	Weak transcription	HSMM	muscle
10	chr1:77749400-77754600	Weak transcription	Osteobl	bone
11	chr1:77749400-77755600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:77749800-77754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:77749800-77768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:77750000-77753800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:77750000-77753800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:77750000-77757400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:77750200-77750800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:77750200-77750800	Weak transcription	NHLF	lung
20	chr1:77750200-77753400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:77750400-77750800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:77750400-77754000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:77750600-77750800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr1:77750600-77751000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr1:77750600-77753400	Enhancers	Brain Substantia Nigra	brain
26	chr1:77750600-77754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:77750600-77772400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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