Variant report

Variant	rs3769164
Chromosome Location	chr2:174062283-174062284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174059671..174062548-chr2:174067092..174070857,3	K562	blood:
2	chr2:174047164..174049311-chr2:174061893..174063545,2	K562	blood:
3	chr2:174060729..174063071-chr2:174065159..174066981,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12465665	1.00[EUR][1000 genomes]
rs12996371	0.81[CHB][hapmap]
rs16861266	0.81[CHB][hapmap];1.00[GIH][hapmap];0.94[EUR][1000 genomes]
rs16861269	0.94[EUR][1000 genomes]
rs16861279	0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs16861295	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16861304	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs16861323	1.00[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053964	0.81[CHB][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.94[EUR][1000 genomes]
rs2119124	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289395	0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739103	0.81[AMR][1000 genomes]
rs3754738	0.81[AMR][1000 genomes]
rs3769155	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769166	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769175	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769176	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769179	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3769183	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769190	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3769206	0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769208	0.94[EUR][1000 genomes]
rs3820832	0.81[AMR][1000 genomes]
rs4632313	0.81[CHB][hapmap];0.80[CHD][hapmap];0.94[EUR][1000 genomes]
rs56676752	0.89[EUR][1000 genomes]
rs58407376	0.99[ASN][1000 genomes]
rs59935415	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61032750	0.94[EUR][1000 genomes]
rs61183795	0.97[ASN][1000 genomes]
rs6717067	0.99[ASN][1000 genomes]
rs6753354	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs73971702	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566222	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7571788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
6	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
8	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
11	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
12	chr2:174049600-174062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
14	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:174049800-174062600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:174050200-174062800	Weak transcription	HepG2	liver
17	chr2:174051600-174065200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:174052000-174063000	Weak transcription	Placenta	Placenta
19	chr2:174052800-174063200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:174053000-174065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:174053400-174062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
23	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:174053400-174078400	Weak transcription	Gastric	stomach
25	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
27	chr2:174053600-174062800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:174054800-174062800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:174055000-174065000	Weak transcription	Primary T cells from cord blood	blood
30	chr2:174055400-174064800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:174056400-174062800	Weak transcription	K562	blood
32	chr2:174056400-174063000	Weak transcription	Fetal Thymus	thymus
33	chr2:174056600-174065600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:174056800-174062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:174056800-174062800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:174056800-174062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:174056800-174063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
39	chr2:174058000-174062800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:174058000-174062800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:174058000-174063000	Weak transcription	NHEK	skin
42	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
43	chr2:174058400-174062800	Weak transcription	Liver	Liver
44	chr2:174058400-174062800	Weak transcription	Dnd41	blood
45	chr2:174058800-174062800	Weak transcription	HSMM	muscle
46	chr2:174059000-174062800	Weak transcription	Fetal Lung	lung
47	chr2:174059000-174075000	Weak transcription	NHLF	lung
48	chr2:174059200-174062800	Weak transcription	HMEC	breast
49	chr2:174059200-174063200	Weak transcription	NH-A	brain
50	chr2:174059400-174062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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