Variant report

Variant	rs6683147
Chromosome Location	chr1:154968305-154968306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154964932..154968514-chr1:155033457..155035305,3	K562	blood:
2	chr1:154967268..154977621-chr1:155049775..155059069,28	MCF-7	breast:
3	chr1:154967948..154968744-chr1:154989730..154990628,4	MCF-7	breast:
4	chr1:154967187..154969898-chr1:155099332..155101802,2	MCF-7	breast:
5	chr1:154966527..154969835-chr1:155047829..155051093,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143590	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11465203	1.00[AMR][1000 genomes]
rs16836586	1.00[AMR][1000 genomes]
rs2070679	1.00[AMR][1000 genomes]
rs6671228	1.00[AMR][1000 genomes]
rs6683706	1.00[AMR][1000 genomes]
rs6698284	1.00[AMR][1000 genomes]
rs7549705	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
4	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154956800-154971200	Weak transcription	Fetal Heart	heart
2	chr1:154956800-154971400	Weak transcription	Fetal Kidney	kidney
3	chr1:154957000-154971400	Weak transcription	NHDF-Ad	bronchial
4	chr1:154957400-154971800	Weak transcription	Small Intestine	intestine
5	chr1:154961600-154970400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:154961600-154970800	Weak transcription	Psoas Muscle	Psoas
7	chr1:154961800-154971400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:154962000-154971400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:154962000-154971400	Weak transcription	Fetal Brain Male	brain
10	chr1:154962200-154971600	Weak transcription	HepG2	liver
11	chr1:154962400-154971400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:154962800-154969800	Weak transcription	GM12878-XiMat	blood
13	chr1:154963000-154970800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:154963000-154971400	Weak transcription	Colonic Mucosa	Colon
15	chr1:154963200-154968600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:154963200-154969600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:154963200-154969800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:154963200-154969800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:154963200-154970000	Weak transcription	Primary T cells from cord blood	blood
20	chr1:154963200-154970800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:154963200-154970800	Weak transcription	Pancreas	Pancrea
22	chr1:154963200-154971200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:154963200-154971400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:154963200-154971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:154963200-154971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:154963200-154971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:154963200-154971400	Weak transcription	Brain Substantia Nigra	brain
28	chr1:154963200-154971400	Weak transcription	Left Ventricle	heart
29	chr1:154963200-154971400	Weak transcription	Ovary	ovary
30	chr1:154963200-154971400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:154963200-154971400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:154963200-154971400	Weak transcription	Right Ventricle	heart
33	chr1:154963200-154971600	Weak transcription	Aorta	Aorta
34	chr1:154963200-154971600	Weak transcription	HMEC	breast
35	chr1:154963200-154971600	Weak transcription	NHEK	skin
36	chr1:154963200-154971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:154963200-154972400	Weak transcription	HSMMtube	muscle
38	chr1:154963400-154969800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:154963400-154971200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:154963400-154972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:154964200-154968600	Weak transcription	Liver	Liver
42	chr1:154964200-154969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:154964200-154971400	Weak transcription	Fetal Lung	lung
44	chr1:154964400-154970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:154964600-154971600	Weak transcription	Osteobl	bone
46	chr1:154965400-154969800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:154965400-154970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:154965400-154971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:154965600-154971600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:154965600-154971800	Weak transcription	Lung	lung

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