Variant report

Variant	rs6660401
Chromosome Location	chr1:92206828-92206829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92197202..92203288-chr1:92206365..92210533,5	K562	blood:
2	chr1:92206771..92209600-chr1:92218197..92220922,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11466587	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11466605	0.86[AMR][1000 genomes]
rs11811962	0.86[AMR][1000 genomes]
rs12722864	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12735851	0.81[AMR][1000 genomes]
rs17131531	0.86[AMR][1000 genomes]
rs17131534	0.81[AMR][1000 genomes]
rs35166025	0.81[AMR][1000 genomes]
rs6665312	0.81[AMR][1000 genomes]
rs7524679	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197000-92215200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:92197200-92215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:92197800-92211000	Weak transcription	Colonic Mucosa	Colon
5	chr1:92198000-92210400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:92198400-92207000	Weak transcription	Gastric	stomach
8	chr1:92198400-92207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:92198400-92210400	Weak transcription	HUVEC	blood vessel
10	chr1:92198600-92207600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:92201000-92208600	Weak transcription	Small Intestine	intestine
14	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:92203000-92208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:92203000-92208400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:92203000-92208600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:92203000-92210400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:92203200-92207200	Weak transcription	Right Atrium	heart
21	chr1:92203200-92207400	Weak transcription	Esophagus	oesophagus
22	chr1:92203200-92207600	Weak transcription	Aorta	Aorta
23	chr1:92203200-92207600	Weak transcription	Psoas Muscle	Psoas
24	chr1:92203200-92207600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:92203200-92208600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:92203200-92210200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:92203200-92210400	Weak transcription	Stomach Mucosa	stomach
28	chr1:92203200-92212800	Weak transcription	Spleen	Spleen
29	chr1:92203400-92207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:92203400-92208000	Weak transcription	Fetal Lung	lung
31	chr1:92203400-92208200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:92203400-92208400	Weak transcription	HMEC	breast
33	chr1:92203400-92208600	Weak transcription	HSMMtube	muscle
34	chr1:92203400-92209400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:92203400-92210200	Weak transcription	Fetal Intestine Large	intestine
36	chr1:92204000-92208200	Weak transcription	Hela-S3	cervix
37	chr1:92204800-92207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:92204800-92207000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:92204800-92207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:92204800-92207800	Weak transcription	Fetal Kidney	kidney
41	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:92205000-92207000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:92205000-92207200	Weak transcription	Adipose Nuclei	Adipose
44	chr1:92205000-92208200	Weak transcription	Liver	Liver
45	chr1:92205000-92208200	Strong transcription	HepG2	liver
46	chr1:92205000-92212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:92205200-92207000	Weak transcription	Ovary	ovary
48	chr1:92205400-92207000	Weak transcription	Fetal Stomach	stomach
49	chr1:92205400-92207400	Weak transcription	A549	lung
50	chr1:92205400-92208600	Weak transcription	Primary T cells fromperipheralblood	blood

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