Variant report

Variant	rs10916364
Chromosome Location	chr1:228884405-228884406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228874211..228876992-chr1:228882867..228885336,2	K562	blood:
2	chr1:228877885..228881410-chr1:228882153..228885594,3	K562	blood:

Variant related genes	Relation type
ENSG00000116574	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10158991	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12078883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848862	0.93[GIH][hapmap]
rs2295256	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35637401	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35832347	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388674	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4391637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531263	0.87[CHD][hapmap];0.93[GIH][hapmap]
rs7526487	0.87[CEU][hapmap];0.85[GIH][hapmap]

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	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228873200-228884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:228876800-228884800	Weak transcription	Fetal Brain Male	brain
3	chr1:228877000-228884800	Weak transcription	Fetal Kidney	kidney
4	chr1:228877200-228889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:228879200-228889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:228880400-228885400	Weak transcription	A549	lung
7	chr1:228880400-228889400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:228880600-228889400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:228880600-228889600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:228880600-228889600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:228880600-228890400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:228881000-228884800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:228881000-228886600	Weak transcription	Gastric	stomach
14	chr1:228881000-228886800	Weak transcription	HepG2	liver
15	chr1:228881000-228889200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:228881000-228889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:228881200-228885200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:228881200-228886200	Weak transcription	Primary T cells from cord blood	blood
19	chr1:228881200-228889600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:228881600-228889600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:228882600-228887600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:228882800-228889200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:228882800-228889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:228882800-228889400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:228882800-228889600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:228883000-228884800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:228883000-228884800	Weak transcription	Aorta	Aorta
28	chr1:228883000-228887800	Weak transcription	Spleen	Spleen
29	chr1:228883000-228889400	Weak transcription	Fetal Lung	lung
30	chr1:228883000-228889600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:228883000-228889600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:228883000-228893600	Weak transcription	Liver	Liver
33	chr1:228883200-228884800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:228883200-228885200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:228883200-228887400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:228883400-228887400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:228883400-228887400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:228883400-228887600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:228883400-228889200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:228883600-228884600	Enhancers	Fetal Thymus	thymus
41	chr1:228883600-228885000	Enhancers	Fetal Intestine Large	intestine
42	chr1:228883600-228885200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:228883600-228885200	Enhancers	Fetal Intestine Small	intestine
44	chr1:228883600-228885800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:228883600-228885800	Weak transcription	Fetal Stomach	stomach
46	chr1:228883600-228886000	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:228883800-228885800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:228883800-228887600	Weak transcription	Fetal Brain Female	brain
49	chr1:228884000-228885000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:228884000-228885200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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