Variant report

Variant	rs6432018
Chromosome Location	chr2:9721896-9721897
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9720059..9721952-chr2:9769612..9771388,2	K562	blood:
2	chr2:9720178..9722999-chr2:9727333..9729197,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10169269	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210225	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1111976	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11674769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887863	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11890807	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11902264	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12476008	1.00[JPT][hapmap]
rs12692388	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13415136	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867062	1.00[JPT][hapmap]
rs16867074	1.00[JPT][hapmap]
rs2357157	0.97[ASN][1000 genomes]
rs3791748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951115	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4668625	1.00[YRI][hapmap]
rs4669400	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119427	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6432019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432020	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432024	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6432025	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs6706227	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745213	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556678	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556757	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558086	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565646	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569485	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596929	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597961	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Heart rate variability traits	22174390	GWAS catalog

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9697200-9723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:9697400-9725000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:9697400-9729800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:9697800-9723600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:9699600-9725600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:9705400-9723600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:9705400-9723600	Weak transcription	Colonic Mucosa	Colon
9	chr2:9706000-9722800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:9706000-9722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
12	chr2:9706200-9722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:9706200-9727800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:9706200-9728000	Weak transcription	Psoas Muscle	Psoas
15	chr2:9706400-9723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:9706400-9725000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:9710800-9723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:9713400-9723400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:9713600-9722800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:9713600-9723000	Weak transcription	HSMMtube	muscle
22	chr2:9713800-9722000	Weak transcription	NHEK	skin
23	chr2:9713800-9723400	Weak transcription	Hela-S3	cervix
24	chr2:9713800-9723400	Weak transcription	HSMM	muscle
25	chr2:9714000-9723600	Weak transcription	NHLF	lung
26	chr2:9714200-9723600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:9714200-9725200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:9714400-9723400	Weak transcription	Placenta	Placenta
29	chr2:9714400-9723400	Weak transcription	HMEC	breast
30	chr2:9714600-9723400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:9714800-9723800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:9715000-9722400	Weak transcription	HUVEC	blood vessel
33	chr2:9715000-9723000	Weak transcription	Osteobl	bone
34	chr2:9715000-9723400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:9715000-9723600	Weak transcription	GM12878-XiMat	blood
36	chr2:9715000-9723600	Weak transcription	NH-A	brain
37	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:9715800-9723600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:9715800-9725600	Weak transcription	Left Ventricle	heart
40	chr2:9716000-9730000	Weak transcription	Right Ventricle	heart
41	chr2:9716400-9723600	Weak transcription	Primary T cells from cord blood	blood
42	chr2:9717000-9723600	Weak transcription	Brain Germinal Matrix	brain
43	chr2:9717200-9725200	Weak transcription	Thymus	Thymus
44	chr2:9717600-9723600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:9717600-9723600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:9717600-9723600	Weak transcription	Fetal Lung	lung
47	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
48	chr2:9718000-9722400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:9718000-9722800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:9718000-9725000	Weak transcription	K562	blood

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