Variant report

Variant	rs10911686
Chromosome Location	chr1:185128545-185128546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185091571..185094298-chr1:185128377..185130619,2	K562	blood:
2	chr1:184721859..184724654-chr1:185126581..185128573,2	MCF-7	breast:
3	chr1:184683246..184684894-chr1:185126908..185129341,2	K562	blood:
4	chr1:184941281..184944338-chr1:185124829..185129491,4	K562	blood:
5	chr1:185123673..185127024-chr1:185127096..185129642,5	MCF-7	breast:
6	chr1:185128329..185131203-chr1:185145594..185147371,2	K562	blood:
7	chr1:185013031..185014942-chr1:185128013..185130394,2	K562	blood:

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000116406	Chromatin interaction
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1046592	0.81[EUR][1000 genomes]
rs10489581	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10797997	0.91[AMR][1000 genomes]
rs10797998	0.88[EUR][1000 genomes]
rs10911676	0.81[EUR][1000 genomes]
rs10911682	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12022419	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12023744	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12025995	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12026000	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12027607	0.91[AMR][1000 genomes]
rs12028809	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12030778	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12030967	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12031837	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12035073	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12035433	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12037466	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12037692	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12039541	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12040650	0.91[AMR][1000 genomes]
rs12041374	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043427	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043495	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043561	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043617	0.80[EUR][1000 genomes]
rs12044161	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12044997	0.85[EUR][1000 genomes]
rs12045772	0.85[EUR][1000 genomes]
rs12046095	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12046202	0.85[EUR][1000 genomes]
rs12046801	0.81[EUR][1000 genomes]
rs12064938	0.87[AMR][1000 genomes]
rs12086086	0.88[EUR][1000 genomes]
rs12094983	0.91[AMR][1000 genomes]
rs12401293	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12404644	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12408279	0.80[EUR][1000 genomes]
rs12408500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409926	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1407554	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1544052	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16865296	0.85[EUR][1000 genomes]
rs2273881	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3766720	0.80[EUR][1000 genomes]
rs3806243	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41264588	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs41264590	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56107433	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61125463	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61495015	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72724103	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72724108	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72739677	0.91[AMR][1000 genomes]
rs72739679	0.83[AMR][1000 genomes]
rs72741807	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72741808	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72741816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72741817	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72741819	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185129200	Weak transcription	HSMM	muscle
4	chr1:185127400-185130400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:185127400-185130400	Weak transcription	Fetal Thymus	thymus
6	chr1:185127400-185133400	Weak transcription	Lung	lung
7	chr1:185127400-185135400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:185127400-185135600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:185127400-185136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
11	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
12	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
14	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
15	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:185127600-185128600	Enhancers	Fetal Heart	heart
17	chr1:185127600-185129200	Enhancers	K562	blood
18	chr1:185127600-185130600	Weak transcription	Primary T cells from cord blood	blood
19	chr1:185127600-185131800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:185127600-185133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:185127600-185133600	Weak transcription	Primary B cells from cord blood	blood
22	chr1:185127600-185134200	Weak transcription	Ovary	ovary
23	chr1:185127600-185135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:185127600-185135800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:185127600-185136400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:185127600-185138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:185127600-185138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:185127600-185139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:185127600-185139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:185127600-185139400	Weak transcription	Fetal Kidney	kidney
31	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
38	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
39	chr1:185127800-185130400	Weak transcription	Thymus	Thymus
40	chr1:185127800-185130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:185127800-185134000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:185127800-185136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:185128000-185128600	Enhancers	Left Ventricle	heart
45	chr1:185128000-185129200	Weak transcription	Osteobl	bone
46	chr1:185128000-185130000	Weak transcription	Fetal Brain Female	brain
47	chr1:185128000-185132200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:185128000-185135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:185128000-185136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:185128000-185136600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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