Variant report

Variant	rs12096214
Chromosome Location	chr1:184689823-184689824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184688642..184690448-chr1:184695282..184698252,2	K562	blood:
2	chr1:184687867..184690558-chr1:184692162..184694552,2	MCF-7	breast:
3	chr1:184687987..184690948-chr1:184692371..184695173,3	K562	blood:
4	chr1:184689208..184691791-chr1:184942117..184944886,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10489697	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489698	0.87[CEU][hapmap]
rs10797985	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911628	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911637	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060621	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067111	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16823421	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16823429	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2224092	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35779894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs41535944	0.85[AFR][1000 genomes]
rs489435	1.00[JPT][hapmap]
rs538337	1.00[JPT][hapmap]
rs55760657	0.88[AMR][1000 genomes]
rs55896922	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56384325	0.93[AFR][1000 genomes]
rs56741490	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs569243	1.00[JPT][hapmap]
rs58465130	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59085958	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59347366	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59634722	0.88[AMR][1000 genomes]
rs59862212	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs603160	1.00[JPT][hapmap]
rs61022402	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823870	0.94[AMR][1000 genomes]
rs61823871	0.94[AMR][1000 genomes]
rs61823873	0.94[AMR][1000 genomes]
rs61823876	0.88[AMR][1000 genomes]
rs61823879	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61823880	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823882	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823885	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823891	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61823908	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs641658	1.00[JPT][hapmap]
rs642027	1.00[JPT][hapmap]
rs6681178	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
4	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
5	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184661200-184690400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:184661400-184690400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:184661600-184693200	Strong transcription	Dnd41	blood
13	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
16	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:184666000-184691400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:184668400-184690400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:184668400-184690600	Strong transcription	Fetal Thymus	thymus
22	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:184668600-184693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:184669400-184692600	Strong transcription	Osteobl	bone
26	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:184669600-184690400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:184669800-184692600	Strong transcription	Placenta	Placenta
29	chr1:184670800-184690200	Strong transcription	Fetal Intestine Large	intestine
30	chr1:184670800-184690400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:184671200-184690200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:184671400-184692600	Strong transcription	Adipose Nuclei	Adipose
34	chr1:184673200-184694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:184673200-184699400	Weak transcription	Gastric	stomach
36	chr1:184673200-184702800	Weak transcription	Spleen	Spleen
37	chr1:184674200-184690200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:184674200-184690400	Strong transcription	NH-A	brain
39	chr1:184674600-184692800	Strong transcription	HSMM	muscle
40	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
41	chr1:184674800-184702200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:184675000-184692400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:184675200-184690200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:184676400-184693000	Strong transcription	K562	blood
45	chr1:184677400-184702800	Weak transcription	Pancreas	Pancrea
46	chr1:184677600-184723200	Weak transcription	Lung	lung
47	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:184679000-184690200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:184679800-184692800	Strong transcription	Liver	Liver
50	chr1:184680200-184695000	Weak transcription	Hela-S3	cervix

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