Variant report

Variant	rs930607
Chromosome Location	chr2:98371458-98371459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98370843..98373809-chr2:98614245..98616130,2	K562	blood:
2	chr2:98367567..98369745-chr2:98371169..98373784,2	K562	blood:
3	chr2:98371016..98372901-chr2:98373770..98376457,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10176201	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10182941	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10200949	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10211231	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1071885	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11123924	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123949	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11123966	0.82[ASN][1000 genomes]
rs11690482	0.82[ASN][1000 genomes]
rs11888323	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11899171	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712123	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712174	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13003978	0.82[ASN][1000 genomes]
rs13006817	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13010946	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022778	0.82[ASN][1000 genomes]
rs13034644	0.89[ASN][1000 genomes]
rs1317178	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13405546	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466020	0.94[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1466924	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1503200	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1922280	0.88[ASN][1000 genomes]
rs1922282	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2091772	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2100058	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141862	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2305142	0.81[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs2309316	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309317	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309356	0.80[ASN][1000 genomes]
rs3762593	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4274643	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560167	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5865	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs6543108	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6543109	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6543161	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543177	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6543202	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6543210	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6707924	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6709571	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6710813	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6719556	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6723466	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6723653	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6744331	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748809	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6748927	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7558931	0.88[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7561104	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7562695	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7567397	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574437	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7577886	0.81[ASN][1000 genomes]
rs7582664	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7598116	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7605180	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9308862	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs956696	0.88[ASN][1000 genomes]
rs9973416	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs930607	ANKRD36B	cis	Nerve Tibial	GTEx
rs930607	ANKRD36B	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
2	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98355000-98373200	Weak transcription	Gastric	stomach
4	chr2:98357400-98372000	Weak transcription	Pancreas	Pancrea
5	chr2:98358600-98372000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:98358800-98371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:98359200-98371800	Weak transcription	Right Ventricle	heart
8	chr2:98359200-98382400	Weak transcription	Psoas Muscle	Psoas
9	chr2:98361000-98373200	Weak transcription	Ovary	ovary
10	chr2:98361200-98371800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:98361200-98372000	Weak transcription	Aorta	Aorta
12	chr2:98362800-98372200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:98363200-98375600	Weak transcription	Hela-S3	cervix
14	chr2:98363600-98371800	Weak transcription	A549	lung
15	chr2:98363800-98373200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:98364200-98373400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:98364600-98374800	Weak transcription	Stomach Mucosa	stomach
18	chr2:98364600-98375000	Weak transcription	Fetal Brain Male	brain
19	chr2:98364800-98372200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:98365000-98373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:98365400-98371800	Weak transcription	Thymus	Thymus
22	chr2:98365400-98371800	Weak transcription	GM12878-XiMat	blood
23	chr2:98365400-98372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:98365400-98372400	Weak transcription	K562	blood
25	chr2:98365400-98373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:98365400-98375000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:98365400-98375400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:98365400-98375800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:98366000-98374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:98366200-98372000	Weak transcription	Fetal Kidney	kidney
31	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:98366400-98376800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:98366400-98384600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:98366800-98377600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:98367200-98385000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:98367400-98380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:98368000-98372000	Weak transcription	Fetal Lung	lung
38	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:98368200-98372200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:98368400-98371800	Weak transcription	Right Atrium	heart
41	chr2:98368400-98377000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:98368400-98383600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:98368600-98373600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:98368800-98372200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:98368800-98373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:98369000-98371800	Weak transcription	NHLF	lung
48	chr2:98369000-98372000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:98369200-98373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:98369200-98381200	Weak transcription	Fetal Heart	heart

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