Variant report

Variant	rs10911673
Chromosome Location	chr1:185034502-185034503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185032736..185034530-chr1:185034703..185036671,2	K562	blood:
2	chr1:185013656..185015515-chr1:185034497..185036753,2	K562	blood:

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1008502	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1046592	0.99[ASN][1000 genomes]
rs10489581	0.80[AMR][1000 genomes]
rs10797998	0.94[ASN][1000 genomes]
rs10911674	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10911676	0.99[ASN][1000 genomes]
rs10911682	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12022419	0.80[AMR][1000 genomes]
rs12025995	0.80[AMR][1000 genomes]
rs12026000	0.80[AMR][1000 genomes]
rs12030761	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12030778	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12030967	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12031837	0.86[AFR][1000 genomes]
rs12035073	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12035433	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12037466	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12037692	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12038919	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12039541	0.86[AFR][1000 genomes]
rs12039657	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12041374	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043427	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043495	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043561	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043617	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12044997	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12045772	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12046095	0.86[AFR][1000 genomes]
rs12046202	0.80[AMR][1000 genomes]
rs12046801	0.99[ASN][1000 genomes]
rs12049293	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12086086	0.94[ASN][1000 genomes]
rs12404644	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12408279	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12409926	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1407554	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1544052	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16823740	0.88[ASN][1000 genomes]
rs16865296	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2273881	0.80[AMR][1000 genomes]
rs2378958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3766720	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs41264588	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs41264590	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs56107433	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61125463	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61495015	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72739693	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72741807	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72741808	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015600-185037000	Weak transcription	Spleen	Spleen
2	chr1:185015600-185037600	Weak transcription	Pancreas	Pancrea
3	chr1:185015800-185037600	Weak transcription	Aorta	Aorta
4	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:185017200-185037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:185017400-185037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:185017400-185037400	Weak transcription	NHEK	skin
12	chr1:185017400-185042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:185018400-185043000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:185018400-185043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
16	chr1:185019000-185034600	Weak transcription	Lung	lung
17	chr1:185019200-185037600	Weak transcription	Left Ventricle	heart
18	chr1:185020400-185039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:185020600-185040200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:185024200-185044000	Weak transcription	Fetal Stomach	stomach
22	chr1:185024200-185056600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:185027200-185056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:185027200-185056400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:185027400-185034600	Weak transcription	Ovary	ovary
26	chr1:185027400-185038000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:185027400-185040000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:185027600-185039000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:185028200-185035200	Weak transcription	Fetal Lung	lung
30	chr1:185028200-185037600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:185028200-185039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:185028800-185038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:185028800-185043400	Weak transcription	Small Intestine	intestine
35	chr1:185029200-185035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:185029200-185037600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:185029600-185042600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:185030200-185041200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:185030200-185076600	Weak transcription	Gastric	stomach
40	chr1:185031000-185035400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:185031000-185037600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:185031200-185035200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:185031200-185037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:185031200-185044000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:185031200-185044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:185031400-185034600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:185031400-185034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:185031400-185037600	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:185031600-185035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:185032200-185057800	Weak transcription	Primary B cells from peripheral blood	blood

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