Variant report

Variant	rs6657128
Chromosome Location	chr1:61783126-61783127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61777609..61779531-chr1:61779675..61784488,4	K562	blood:
2	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
3	chr1:61783085..61786028-chr1:61788145..61790007,2	MCF-7	breast:
4	chr1:61733972..61736610-chr1:61780635..61784681,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12735438	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743816	0.87[AMR][1000 genomes]
rs12745353	0.91[AMR][1000 genomes]
rs2067774	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34094870	0.87[AMR][1000 genomes]
rs34155705	0.81[AMR][1000 genomes]
rs35083921	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35688418	0.80[AMR][1000 genomes]
rs66536513	0.91[AMR][1000 genomes]
rs6675218	1.00[ASN][1000 genomes]
rs6704173	0.91[AMR][1000 genomes]
rs67885818	0.87[AMR][1000 genomes]
rs71641729	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666617	1.00[ASN][1000 genomes]
rs7544213	0.87[AMR][1000 genomes]
rs7545738	0.91[AMR][1000 genomes]
rs7555828	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
3	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:61767800-61784000	Weak transcription	Liver	Liver
7	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:61768800-61784400	Weak transcription	A549	lung
12	chr1:61769400-61783600	Weak transcription	NHEK	skin
13	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:61773400-61783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:61774200-61783400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:61776000-61784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:61776400-61784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:61776600-61784000	Weak transcription	Aorta	Aorta
19	chr1:61777800-61784000	Weak transcription	Gastric	stomach
20	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:61779000-61784600	Weak transcription	Fetal Intestine Large	intestine
22	chr1:61779200-61783800	Weak transcription	Fetal Lung	lung
23	chr1:61779200-61785200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:61779800-61783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:61779800-61783800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:61779800-61784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:61780000-61783600	Weak transcription	HUVEC	blood vessel
28	chr1:61780000-61784000	Weak transcription	Pancreas	Pancrea
29	chr1:61780000-61784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:61780000-61784400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:61780000-61784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:61780200-61784200	Weak transcription	HepG2	liver
33	chr1:61780600-61784000	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:61781200-61783600	Weak transcription	Fetal Brain Male	brain
35	chr1:61782000-61784000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:61782200-61784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:61782200-61784000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:61782200-61784000	Weak transcription	Fetal Stomach	stomach
39	chr1:61782200-61788600	Weak transcription	Fetal Brain Female	brain
40	chr1:61782400-61783800	Weak transcription	Right Atrium	heart
41	chr1:61782400-61784000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:61782400-61784000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:61782400-61784000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:61782400-61784000	Weak transcription	Left Ventricle	heart
45	chr1:61782400-61784000	Weak transcription	Ovary	ovary
46	chr1:61782400-61784000	Weak transcription	Psoas Muscle	Psoas
47	chr1:61782400-61784000	Weak transcription	Right Ventricle	heart
48	chr1:61782400-61784000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:61782400-61784600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:61782400-61785400	Weak transcription	Spleen	Spleen

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