Variant report

Variant	rs7568128
Chromosome Location	chr2:231273229-231273230
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	chr2:231211181..231213107-chr2:231272080..231274624,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1074886	0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11675127	0.94[ASN][1000 genomes]
rs11675135	0.94[ASN][1000 genomes]
rs11676089	0.94[ASN][1000 genomes]
rs11676310	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11677462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11677512	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11677646	0.91[ASN][1000 genomes]
rs11679026	0.91[ASN][1000 genomes]
rs11681234	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11681358	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11687964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11688362	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11688458	0.87[ASN][1000 genomes]
rs11692506	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11692527	0.94[ASN][1000 genomes]
rs11692602	0.94[ASN][1000 genomes]
rs11693767	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11694346	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694422	0.90[ASN][1000 genomes]
rs11694428	0.90[ASN][1000 genomes]
rs11695277	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12694865	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1427284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17273079	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17332171	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17332742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17333189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2303608	0.93[ASN][1000 genomes]
rs35919859	0.90[ASN][1000 genomes]
rs3752431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3754940	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3754941	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3754942	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3754943	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769849	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3815885	0.93[ASN][1000 genomes]
rs3893836	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55637456	0.87[ASN][1000 genomes]
rs55770359	0.93[ASN][1000 genomes]
rs55893188	0.91[ASN][1000 genomes]
rs55964110	0.94[ASN][1000 genomes]
rs56007282	0.93[ASN][1000 genomes]
rs56044062	0.94[ASN][1000 genomes]
rs56052963	0.94[ASN][1000 genomes]
rs56105857	0.94[ASN][1000 genomes]
rs56108366	0.94[ASN][1000 genomes]
rs56251216	0.94[ASN][1000 genomes]
rs56270546	0.85[ASN][1000 genomes]
rs56303947	0.94[ASN][1000 genomes]
rs56372741	0.87[ASN][1000 genomes]
rs56401027	0.91[ASN][1000 genomes]
rs6436933	0.94[ASN][1000 genomes]
rs6706167	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6713447	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6713465	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6722656	0.90[ASN][1000 genomes]
rs6725726	0.90[ASN][1000 genomes]
rs6732684	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6732940	0.94[ASN][1000 genomes]
rs6748339	0.94[ASN][1000 genomes]
rs6748445	0.88[CHD][hapmap];0.94[ASN][1000 genomes]
rs6750712	0.93[ASN][1000 genomes]
rs6753500	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6759292	0.93[ASN][1000 genomes]
rs6761255	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs68096532	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72495174	0.94[ASN][1000 genomes]
rs72495175	0.94[ASN][1000 genomes]
rs72495176	0.94[ASN][1000 genomes]
rs72495180	0.94[ASN][1000 genomes]
rs72495181	0.94[ASN][1000 genomes]
rs72495182	0.94[ASN][1000 genomes]
rs72495183	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72495185	0.93[ASN][1000 genomes]
rs725202	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs72994332	0.91[ASN][1000 genomes]
rs72996270	0.91[ASN][1000 genomes]
rs72996292	0.94[ASN][1000 genomes]
rs72998203	0.94[ASN][1000 genomes]
rs72998264	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998283	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000239	0.93[ASN][1000 genomes]
rs73000253	0.93[ASN][1000 genomes]
rs73000268	0.93[ASN][1000 genomes]
rs7559665	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7563909	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7565654	0.81[ASN][1000 genomes]
rs7585646	0.94[ASN][1000 genomes]
rs7585731	0.94[ASN][1000 genomes]
rs7589948	0.94[ASN][1000 genomes]
rs7597033	0.94[ASN][1000 genomes]
rs7606804	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999888	1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7568128	SP140L	cis	Adipose Subcutaneous	GTEx
rs7568128	SP140L	cis	Thyroid	GTEx
rs7568128	TRPM8	cis	cerebellum	SCAN
rs7568128	SP140L	cis	lymphoblastoid	seeQTL
rs7568128	SP140L	cis	Nerve Tibial	GTEx
rs7568128	LOC93349	Cis_1M	lymphoblastoid	RTeQTL
rs7568128	SP140L	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
3	chr2:231234200-231274400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:231248000-231274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:231255200-231275600	Weak transcription	HMEC	breast
6	chr2:231258800-231275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:231260200-231275400	Weak transcription	Small Intestine	intestine
8	chr2:231264600-231275800	Weak transcription	K562	blood
9	chr2:231265000-231275600	Weak transcription	Fetal Heart	heart
10	chr2:231265400-231275400	Weak transcription	HepG2	liver
11	chr2:231265600-231275400	Weak transcription	Colonic Mucosa	Colon
12	chr2:231265600-231275400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:231265600-231275600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:231267600-231275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:231268600-231275200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:231268800-231273400	Weak transcription	Ovary	ovary
17	chr2:231268800-231273800	Weak transcription	Thymus	Thymus
18	chr2:231268800-231275400	Weak transcription	Fetal Thymus	thymus
19	chr2:231268800-231275600	Weak transcription	Dnd41	blood
20	chr2:231269000-231273400	Weak transcription	Gastric	stomach
21	chr2:231269000-231275200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:231269000-231275200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:231269200-231275600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:231269200-231275800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:231269600-231273400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:231269800-231273400	Weak transcription	Esophagus	oesophagus
27	chr2:231269800-231273800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:231269800-231274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:231269800-231275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:231269800-231275600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:231270000-231276000	Enhancers	HUVEC	blood vessel
32	chr2:231270200-231273400	Weak transcription	Placenta	Placenta
33	chr2:231270200-231273600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:231270600-231273400	Weak transcription	Liver	Liver
35	chr2:231270600-231273800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:231270600-231275600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:231270600-231275800	Weak transcription	HSMMtube	muscle
38	chr2:231270800-231274400	Weak transcription	GM12878-XiMat	blood
39	chr2:231270800-231275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:231271400-231273800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:231271600-231273600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:231271800-231273800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:231271800-231275400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:231272000-231275600	Weak transcription	Primary T cells from cord blood	blood
45	chr2:231272000-231275600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:231272000-231275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:231272400-231274600	Enhancers	Right Atrium	heart
48	chr2:231272600-231273600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:231272600-231273800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:231272600-231274000	Enhancers	NHLF	lung

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