Variant report

Variant	rs972768
Chromosome Location	chr2:99682397-99682398
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99347012..99347636-chr2:99682209..99682753,2	MCF-7	breast:
2	chr2:99265511..99266529-chr2:99682139..99682979,3	K562	blood:
3	chr2:99552080..99554137-chr2:99681642..99683151,2	MCF-7	breast:
4	chr2:99678573..99681466-chr2:99681524..99683363,2	MCF-7	breast:
5	chr2:99681346..99684760-chr2:99690104..99692439,3	K562	blood:
6	chr2:99682196..99683733-chr2:99690104..99693098,2	K562	blood:
7	chr2:99224528..99226809-chr2:99681520..99684338,2	MCF-7	breast:
8	chr2:99265627..99266606-chr2:99681933..99683499,6	MCF-7	breast:
9	chr2:99223859..99226826-chr2:99680320..99683264,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000196872	Chromatin interaction
ENSG00000071073	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10153626	0.83[AMR][1000 genomes]
rs10165534	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10170063	0.81[EUR][1000 genomes]
rs10179043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10181344	0.90[CEU][hapmap]
rs10190421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10193019	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10193113	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10196680	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10202452	0.91[EUR][1000 genomes]
rs1044575	0.85[ASN][1000 genomes]
rs10865029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11123761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs11123762	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11123763	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11123764	0.90[ASN][1000 genomes]
rs11123765	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11123766	0.90[ASN][1000 genomes]
rs1115756	0.82[EUR][1000 genomes]
rs1115757	0.83[EUR][1000 genomes]
rs11677247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11677321	0.85[ASN][1000 genomes]
rs11678456	1.00[ASN][1000 genomes]
rs11684507	0.81[AFR][1000 genomes]
rs11684610	0.83[ASN][1000 genomes]
rs11685759	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11689265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs11692699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11693427	0.84[ASN][1000 genomes]
rs11695379	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11695751	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11883676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[ASN][1000 genomes]
rs11890338	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11897712	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11900670	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12053372	0.85[CEU][hapmap]
rs12464710	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467679	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12468807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12470471	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs12473029	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475034	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12477754	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477978	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12619780	0.85[AFR][1000 genomes]
rs12621007	0.84[ASN][1000 genomes]
rs12992218	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12992930	0.82[ASN][1000 genomes]
rs12995473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[ASN][1000 genomes]
rs12999417	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs13004491	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13008496	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs13009147	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13018891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[ASN][1000 genomes]
rs13020339	0.88[ASN][1000 genomes]
rs13022329	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13023744	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13030961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs13035311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs13396358	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13412640	0.88[AMR][1000 genomes]
rs13412764	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1349778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1349779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1453561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1453562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1530996	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1580068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17708218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17708262	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs17760953	0.85[CEU][hapmap]
rs1993230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084988	0.81[EUR][1000 genomes]
rs2123686	0.90[CEU][hapmap]
rs2171359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs2309524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs2516827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2516828	0.90[ASN][1000 genomes]
rs2516829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[ASN][1000 genomes]
rs2516832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2516834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2516836	0.87[ASN][1000 genomes]
rs2632260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2632261	0.90[ASN][1000 genomes]
rs2632277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs2632284	0.88[ASN][1000 genomes]
rs28648058	0.84[EUR][1000 genomes]
rs2964969	0.90[ASN][1000 genomes]
rs2969379	0.88[ASN][1000 genomes]
rs34252185	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34766932	0.93[ASN][1000 genomes]
rs35001733	0.89[EUR][1000 genomes]
rs35461437	0.84[ASN][1000 genomes]
rs36071868	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4324365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4340581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4374423	0.90[CEU][hapmap]
rs4402818	1.00[ASN][1000 genomes]
rs4588238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[ASN][1000 genomes]
rs4622780	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4851179	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4851183	0.90[CEU][hapmap]
rs4851184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4851185	0.90[CEU][hapmap]
rs4851187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62154638	0.80[EUR][1000 genomes]
rs62156364	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542852	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542858	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542863	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6542864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs6542865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[ASN][1000 genomes]
rs6542869	0.88[ASN][1000 genomes]
rs6542870	0.85[ASN][1000 genomes]
rs6704766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs6712704	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6717723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6717729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs6721535	0.91[EUR][1000 genomes]
rs6726618	0.84[ASN][1000 genomes]
rs6732579	0.90[EUR][1000 genomes]
rs6735801	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6736064	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6737257	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6739579	0.93[ASN][1000 genomes]
rs6740035	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6740267	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6741772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6741773	0.84[ASN][1000 genomes]
rs6743355	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6750876	0.90[CEU][hapmap]
rs6751927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6753063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[ASN][1000 genomes]
rs6753650	0.89[AFR][1000 genomes]
rs6754843	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6756650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[ASN][1000 genomes]
rs6756880	0.90[CEU][hapmap]
rs6757019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6757661	0.85[ASN][1000 genomes]
rs6759354	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7349217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7558004	0.85[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571390	0.90[CEU][hapmap]
rs7572660	0.85[ASN][1000 genomes]
rs7577477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7584809	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7586608	0.86[CEU][hapmap]
rs7604557	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7605734	0.90[CEU][hapmap]
rs7605843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7606635	0.90[CEU][hapmap]
rs8179690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs896886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9308816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9710648	0.90[CEU][hapmap]
rs9808541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9941561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs995617	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs972768	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs972768	TSGA10	cis	Lymphoblastoid	GTEx
rs972768	TSGA10	cis	multi-tissue	Pritchard
rs972768	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs972768	TSGA10	cis	Thyroid	GTEx
rs972768	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99680400-99682400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:99681400-99683400	Enhancers	Primary T cells from cord blood	blood
3	chr2:99681600-99682800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:99681600-99683000	Enhancers	Fetal Intestine Small	intestine
5	chr2:99681600-99683800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:99681800-99682400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:99681800-99682400	Enhancers	Fetal Intestine Large	intestine
8	chr2:99681800-99682600	Enhancers	Dnd41	blood
9	chr2:99681800-99682800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:99681800-99682800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:99681800-99683400	Enhancers	HUVEC	blood vessel
12	chr2:99681800-99683800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:99682000-99682400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:99682000-99683000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:99682000-99683000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:99682000-99683600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:99682000-99683600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:99682000-99683600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:99682000-99685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:99682200-99682800	Weak transcription	Stomach Mucosa	stomach
21	chr2:99682200-99682800	Enhancers	GM12878-XiMat	blood

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