Variant report

Variant	rs10497508
Chromosome Location	chr2:178270734-178270735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178200874..178203200-chr2:178268312..178271320,3	K562	blood:
2	chr2:178126373..178129626-chr2:178270200..178272938,3	K562	blood:

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10165785	0.88[ASN][1000 genomes]
rs10170546	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10170667	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10176632	0.86[ASN][1000 genomes]
rs10194648	0.85[ASN][1000 genomes]
rs10201153	0.81[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap]
rs10497502	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497503	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10803909	0.83[ASN][1000 genomes]
rs10930792	0.86[ASN][1000 genomes]
rs1135118	1.00[LWK][hapmap]
rs11893448	0.89[ASN][1000 genomes]
rs12104588	0.85[ASN][1000 genomes]
rs12469386	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12611938	0.84[ASN][1000 genomes]
rs12614820	0.84[ASN][1000 genomes]
rs12615367	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.89[ASN][1000 genomes]
rs12616093	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12616443	0.84[ASN][1000 genomes]
rs12618139	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12620035	0.88[ASN][1000 genomes]
rs12693120	0.89[ASN][1000 genomes]
rs12990729	0.85[ASN][1000 genomes]
rs12996447	0.86[ASN][1000 genomes]
rs13000048	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs13004955	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13027959	0.86[ASN][1000 genomes]
rs1348848	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1348849	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1348850	0.85[JPT][hapmap]
rs1374437	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1453370	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1453371	0.86[ASN][1000 genomes]
rs1453373	0.90[JPT][hapmap]
rs16865203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865229	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865291	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16865328	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs16865331	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1901825	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1901826	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1901829	0.80[ASN][1000 genomes]
rs1979058	0.86[ASN][1000 genomes]
rs2034678	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2060929	0.91[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2084233	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2121430	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2166558	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2197611	0.85[ASN][1000 genomes]
rs2364853	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2364854	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3213945	1.00[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.89[ASN][1000 genomes]
rs3769995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769996	1.00[ASW][hapmap];0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769997	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770002	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813259	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3902850	0.86[ASN][1000 genomes]
rs4243388	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4341974	0.84[ASN][1000 genomes]
rs4893821	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs4893822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4893823	0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4893824	0.88[ASN][1000 genomes]
rs4893825	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4893935	0.82[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs4893936	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4893938	0.85[ASN][1000 genomes]
rs4893941	0.89[ASN][1000 genomes]
rs4893944	0.86[ASN][1000 genomes]
rs4893945	0.89[ASN][1000 genomes]
rs4893946	0.84[ASN][1000 genomes]
rs4893950	0.80[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4893951	0.95[ASN][1000 genomes]
rs4893954	0.82[ASN][1000 genomes]
rs4893957	0.81[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4893959	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4893961	0.85[JPT][hapmap]
rs4893962	0.85[JPT][hapmap]
rs56942680	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57273542	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57295810	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57527255	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57541536	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57733896	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57948641	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58297927	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58483300	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59111239	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59421055	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59504156	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59578457	0.84[ASN][1000 genomes]
rs59751564	0.87[ASN][1000 genomes]
rs60642012	0.93[ASN][1000 genomes]
rs60670838	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60733259	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433670	0.85[ASN][1000 genomes]
rs6433673	0.83[ASN][1000 genomes]
rs6710575	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6742951	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7565022	0.84[ASN][1000 genomes]
rs7573763	0.85[ASN][1000 genomes]
rs7586051	0.89[ASN][1000 genomes]
rs7587604	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7591807	0.90[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7604673	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7606235	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7607450	0.85[ASN][1000 genomes]
rs8941	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs952746	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9679607	0.86[ASN][1000 genomes]
rs9789582	0.86[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10497508	ZNF385B	cis	cerebellum	SCAN
rs10497508	HOXD10	cis	parietal	SCAN
rs10497508	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258400-178272600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:178258800-178277200	Weak transcription	Right Ventricle	heart
3	chr2:178258800-178285000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
5	chr2:178259800-178271200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:178260200-178272800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:178260200-178280200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:178260400-178272600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:178260400-178285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:178262800-178271600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:178262800-178272800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:178262800-178279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:178263200-178275400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:178264000-178273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:178264200-178282800	Weak transcription	Dnd41	blood
17	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:178264400-178271600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:178264400-178272200	Weak transcription	Left Ventricle	heart
20	chr2:178264400-178280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:178264600-178270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:178265400-178271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:178265600-178273200	Weak transcription	HSMMtube	muscle
24	chr2:178265600-178287000	Weak transcription	K562	blood
25	chr2:178265800-178272600	Weak transcription	GM12878-XiMat	blood
26	chr2:178266000-178280200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:178266800-178273800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:178267400-178271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:178267600-178273000	Enhancers	HepG2	liver
30	chr2:178267800-178270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:178268200-178277000	Weak transcription	Fetal Stomach	stomach
32	chr2:178268400-178271200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:178268600-178272200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:178268800-178270800	Enhancers	Gastric	stomach
35	chr2:178268800-178271000	Enhancers	Stomach Mucosa	stomach
36	chr2:178268800-178271400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:178268800-178278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:178269000-178270800	Enhancers	Liver	Liver
39	chr2:178269000-178271000	Enhancers	HMEC	breast
40	chr2:178269000-178271200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:178269000-178278200	Weak transcription	A549	lung
42	chr2:178269200-178270800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:178269200-178272800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:178269200-178283000	Weak transcription	HSMM	muscle
45	chr2:178269200-178283000	Weak transcription	Osteobl	bone
46	chr2:178269800-178271000	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:178269800-178271000	Enhancers	Fetal Intestine Small	intestine
48	chr2:178269800-178271000	Enhancers	Small Intestine	intestine
49	chr2:178269800-178271800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:178270000-178271200	Weak transcription	Adipose Nuclei	Adipose

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