Variant report

Variant	rs648310
Chromosome Location	chr1:85915134-85915135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85913232..85915386-chr1:85917552..85919124,2	K562	blood:
2	chr1:85911377..85913833-chr1:85913866..85915628,2	MCF-7	breast:
3	chr1:85912844..85915674-chr1:86040925..86042753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1146381	0.82[CHD][hapmap]
rs12717764	0.80[CHD][hapmap]
rs6657732	0.87[GIH][hapmap]
rs669173	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv441699	chr1:85911291-85915402	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85907000-85919600	Weak transcription	Right Atrium	heart
4	chr1:85909200-85916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:85910400-85916000	Weak transcription	HMEC	breast
6	chr1:85911200-85917200	Enhancers	NHDF-Ad	bronchial
7	chr1:85911800-85916600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:85912200-85915600	Genic enhancers	HSMM	muscle
9	chr1:85912200-85916000	Enhancers	Liver	Liver
10	chr1:85912200-85917400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:85912400-85915400	Enhancers	Brain Anterior Caudate	brain
12	chr1:85912800-85915800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:85912800-85916000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:85913400-85915400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:85913400-85917800	Weak transcription	Fetal Kidney	kidney
16	chr1:85913800-85915400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:85913800-85916600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:85913800-85916800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:85913800-85916800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:85913800-85916800	Weak transcription	Right Ventricle	heart
21	chr1:85913800-85918400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:85913800-85918400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:85913800-85920400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:85914000-85915400	Enhancers	Brain Substantia Nigra	brain
25	chr1:85914000-85917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:85914200-85915200	Enhancers	Ovary	ovary
27	chr1:85914200-85915200	Weak transcription	Stomach Mucosa	stomach
28	chr1:85914200-85916800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:85914200-85917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:85914200-85924800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:85914400-85916800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:85914400-85917000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:85914400-85917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:85914400-85918800	Weak transcription	HepG2	liver
35	chr1:85914600-85915200	Enhancers	Fetal Stomach	stomach
36	chr1:85914600-85917400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:85914600-85917400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85914600-85917600	Weak transcription	Fetal Lung	lung
39	chr1:85914800-85915200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:85914800-85915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:85914800-85915200	Enhancers	Adipose Nuclei	Adipose
42	chr1:85914800-85915200	Enhancers	Aorta	Aorta
43	chr1:85914800-85915200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:85914800-85915400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:85914800-85915400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:85914800-85915400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr1:85914800-85915400	Enhancers	Fetal Muscle Leg	muscle
48	chr1:85914800-85915600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:85914800-85915600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:85914800-85915600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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