Variant report

Variant	rs10745331
Chromosome Location	chr1:113186778-113186779
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113186005..113187624-chr1:113228785..113231335,2	K562	blood:
2	chr1:113168098..113169981-chr1:113185356..113187404,2	K562	blood:
3	chr1:113185385..113187833-chr1:113187867..113189719,2	K562	blood:
4	chr1:113185627..113187951-chr1:113190592..113192207,2	K562	blood:
5	chr1:113183818..113187593-chr1:113245364..113249347,3	K562	blood:

Variant related genes	Relation type
ENSG00000155366	Chromatin interaction
ENSG00000235299	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10745332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12048528	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12125361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12138335	1.00[CEU][hapmap]
rs1238	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12401734	1.00[CEU][hapmap]
rs12402469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12402929	0.95[CEU][hapmap]
rs12406906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12739994	1.00[CEU][hapmap]
rs12750621	1.00[CEU][hapmap]
rs2273369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932529	1.00[CEU][hapmap]
rs2932534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932539	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3013441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3790611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3790612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3795820	1.00[CEU][hapmap]
rs4838960	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4839257	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6537740	1.00[CEU][hapmap]
rs6537742	0.84[CEU][hapmap]
rs6537744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6537745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6537746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6537747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6658555	1.00[CEU][hapmap]
rs6668533	1.00[CEU][hapmap]
rs6671645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6673930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6681371	1.00[CEU][hapmap]
rs6682678	0.85[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs6690292	1.00[CEU][hapmap]
rs7415988	1.00[CEU][hapmap]
rs7516421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7522110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7527076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7535636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7551933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
6	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10745331	ST7L	cis	Nerve Tibial	GTEx
rs10745331	ST7L	cis	lung	GTEx
rs10745331	CAPZA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
2	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:113164000-113190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
6	chr1:113168800-113187200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:113168800-113189800	Weak transcription	Fetal Lung	lung
8	chr1:113168800-113191000	Weak transcription	Ovary	ovary
9	chr1:113168800-113199800	Weak transcription	Esophagus	oesophagus
10	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
11	chr1:113169000-113189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:113169200-113188400	Weak transcription	Left Ventricle	heart
13	chr1:113169800-113188800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:113172600-113191400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:113173400-113186800	Weak transcription	Fetal Stomach	stomach
16	chr1:113174400-113190000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:113175200-113188800	Weak transcription	Gastric	stomach
18	chr1:113175200-113189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:113175200-113199800	Weak transcription	Psoas Muscle	Psoas
20	chr1:113175200-113200000	Weak transcription	Right Atrium	heart
21	chr1:113176000-113199200	Weak transcription	Fetal Brain Female	brain
22	chr1:113178200-113191400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:113179400-113191400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:113179600-113197400	Weak transcription	Colonic Mucosa	Colon
26	chr1:113179800-113187400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:113179800-113189800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:113179800-113191400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:113180000-113191400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:113180000-113193800	Weak transcription	Stomach Mucosa	stomach
31	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:113180200-113186800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:113180200-113187400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:113180200-113187600	Weak transcription	Small Intestine	intestine
35	chr1:113180200-113189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:113180200-113190000	Weak transcription	Liver	Liver
37	chr1:113180200-113190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:113180200-113190400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:113180200-113191600	Weak transcription	NHLF	lung
40	chr1:113180200-113199800	Weak transcription	Spleen	Spleen
41	chr1:113180200-113200800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:113180200-113203000	Weak transcription	Aorta	Aorta
43	chr1:113180400-113187200	Weak transcription	HSMM	muscle
44	chr1:113180400-113187400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:113180400-113188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:113180400-113190000	Weak transcription	NH-A	brain
47	chr1:113180400-113190200	Weak transcription	Adipose Nuclei	Adipose
48	chr1:113180400-113191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:113180400-113191000	Weak transcription	Lung	lung
50	chr1:113180400-113193200	Weak transcription	HSMMtube	muscle

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