Variant report

Variant	rs6698620
Chromosome Location	chr1:185196561-185196562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs11804954	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12033761	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12045533	1.00[EUR][1000 genomes]
rs12240005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823734	1.00[EUR][1000 genomes]
rs16823739	1.00[EUR][1000 genomes]
rs16823862	1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[EUR][1000 genomes]
rs16823869	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs16823875	1.00[GIH][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823884	1.00[GIH][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823891	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2025228	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs3766713	1.00[GIH][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766716	1.00[GIH][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3895195	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs41377350	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs57266144	1.00[EUR][1000 genomes]
rs57927210	1.00[EUR][1000 genomes]
rs57960155	1.00[EUR][1000 genomes]
rs58031282	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58292874	0.84[AMR][1000 genomes]
rs58685423	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59035619	1.00[EUR][1000 genomes]
rs59227355	1.00[EUR][1000 genomes]
rs59611551	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61537994	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61573899	1.00[EUR][1000 genomes]
rs6672580	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6674689	0.84[ASW][hapmap];1.00[YRI][hapmap]
rs6679946	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687946	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6695308	0.84[ASW][hapmap];0.85[YRI][hapmap]
rs7516303	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540216	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7555243	1.00[EUR][1000 genomes]
rs953701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs953702	0.84[AMR][1000 genomes];1.00[EUR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv946540	chr1:185191105-185200377	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185128400-185201800	Weak transcription	Gastric	stomach
3	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
8	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
9	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
10	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
11	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
12	chr1:185183800-185199400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:185185200-185197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:185188400-185197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:185190600-185201600	Weak transcription	Spleen	Spleen
17	chr1:185192200-185201400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:185192400-185199600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:185192400-185200600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:185192600-185204800	Weak transcription	Fetal Brain Female	brain
24	chr1:185192600-185205800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:185192600-185207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
27	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:185193000-185199600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:185193200-185201600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:185193200-185203200	Weak transcription	Placenta	Placenta
31	chr1:185193400-185199000	Weak transcription	Adipose Nuclei	Adipose
32	chr1:185193400-185200600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:185193400-185201400	Weak transcription	Brain Germinal Matrix	brain
34	chr1:185193400-185208000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:185193600-185196800	Weak transcription	Left Ventricle	heart
36	chr1:185193600-185197800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:185193600-185200800	Weak transcription	Liver	Liver
38	chr1:185193600-185201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:185193600-185201600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:185193600-185202200	Weak transcription	Primary B cells from cord blood	blood
41	chr1:185193600-185203800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:185193600-185203800	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:185193600-185204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:185193600-185208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:185193800-185205200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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