Variant report

Variant	rs35626308
Chromosome Location	chr1:222816356-222816357
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:222816189-222818471	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:222816312-222818556	MCF10A-Er-Src	breast:	n/a	n/a
3	SREBP1	chr1:222816253-222818634	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222814795..222819438-chr1:222884035..222887873,13	K562	blood:
2	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
3	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:
4	chr1:222815490..222817293-chr1:223385380..223388069,2	K562	blood:
5	chr1:222815720..222818727-chr1:222847963..222850560,3	K562	blood:
6	chr1:222815622..222820703-chr1:222883498..222888165,14	K562	blood:
7	chr1:222800761..222802985-chr1:222815781..222817428,2	MCF-7	breast:
8	chr1:222798717..222801215-chr1:222815665..222817228,2	K562	blood:
9	chr1:222798057..222800668-chr1:222815376..222816886,2	MCF-7	breast:
10	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
11	chr1:222720096..222721859-chr1:222816165..222817680,2	MCF-7	breast:
12	chr1:222638825..222640847-chr1:222815330..222817440,2	MCF-7	breast:
13	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
14	chr1:222762853..222764726-chr1:222816205..222818798,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229399	TF binding region
MIA3	TF binding region
ENSG00000143512	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000225265	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000143498	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10495198	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1133220	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12043288	0.83[ASN][1000 genomes]
rs12138316	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17011666	0.90[ASN][1000 genomes]
rs17011681	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17163301	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17163313	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17163345	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17163358	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163360	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163363	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17465637	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17465940	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17465982	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17532708	0.83[ASN][1000 genomes]
rs1909195	0.90[ASN][1000 genomes]
rs1909197	0.86[ASN][1000 genomes]
rs2133187	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133189	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270707	0.84[ASN][1000 genomes]
rs2291832	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291834	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378584	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28709375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34032254	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34767248	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35158675	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35175385	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35700460	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35725247	0.85[ASN][1000 genomes]
rs3748626	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282830	0.83[ASN][1000 genomes]
rs4575092	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846384	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4846769	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4846770	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61824331	0.85[ASN][1000 genomes]
rs67180937	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71524942	0.91[EUR][1000 genomes];0.87[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
6	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222801000-222816600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:222801400-222816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:222801600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:222802200-222816800	Weak transcription	Stomach Mucosa	stomach
11	chr1:222802400-222816600	Weak transcription	HMEC	breast
12	chr1:222802600-222816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:222802800-222816600	Weak transcription	GM12878-XiMat	blood
14	chr1:222803000-222816800	Weak transcription	Colonic Mucosa	Colon
15	chr1:222803200-222816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:222803200-222816600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:222803800-222816600	Weak transcription	NHLF	lung
18	chr1:222804400-222817000	Weak transcription	Fetal Brain Male	brain
19	chr1:222805800-222816600	Weak transcription	Fetal Heart	heart
20	chr1:222805800-222817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:222806400-222816600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:222806400-222816600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:222806400-222816600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:222806600-222816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:222806600-222816600	Weak transcription	HUVEC	blood vessel
26	chr1:222806800-222816600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:222807000-222816400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:222807000-222816600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:222807000-222816600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:222807000-222816800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:222807000-222816800	Weak transcription	Right Ventricle	heart
32	chr1:222807200-222816600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:222807200-222816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:222807200-222816600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:222807200-222816800	Weak transcription	Brain Germinal Matrix	brain
36	chr1:222807400-222816600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:222807400-222816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:222807400-222816600	Weak transcription	Brain Substantia Nigra	brain
39	chr1:222807400-222817000	Weak transcription	Aorta	Aorta
40	chr1:222807600-222816600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:222807600-222816600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:222807600-222816600	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:222807600-222816600	Weak transcription	Lung	lung
44	chr1:222807600-222816600	Weak transcription	Pancreas	Pancrea
45	chr1:222807600-222816800	Weak transcription	Psoas Muscle	Psoas
46	chr1:222807600-222817000	Weak transcription	Esophagus	oesophagus
47	chr1:222807600-222817000	Weak transcription	Spleen	Spleen
48	chr1:222808200-222816600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:222808200-222816600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:222808600-222816600	Weak transcription	Brain Angular Gyrus	brain

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