Variant report

Variant	rs1381893
Chromosome Location	chr4:103261236-103261237
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103259213..103262193-chrX:77930319..77931822,3	K562	blood:
2	chr17:41399594..41402576-chr4:103259193..103262212,4	K562	blood:
3	chr4:103257918..103260237-chr4:103260669..103263313,2	K562	blood:
4	chr17:41463783..41465388-chr4:103260692..103262213,3	K562	blood:
5	chr4:103260693..103262213-chr6:142364799..142366317,2	K562	blood:
6	chr17:41380701..41382229-chr4:103260692..103262193,2	MCF-7	breast:
7	chr17:41463734..41465679-chr4:103259193..103262193,4	MCF-7	breast:
8	chr17:41465898..41467694-chr4:103260693..103262193,2	MCF-7	breast:
9	chr17:41399011..41402659-chr4:103259193..103262212,6	K562	blood:
10	chr17:41463744..41468269-chr4:103259193..103262213,9	K562	blood:
11	chr4:103259206..103263947-chr4:103264317..103267329,6	MCF-7	breast:
12	chr4:103259700..103262142-chr4:103265164..103267219,4	MCF-7	breast:
13	chr4:103255005..103257133-chr4:103259240..103261648,2	K562	blood:
14	chr17:41398787..41400703-chr4:103259213..103262213,3	MCF-7	breast:
15	chr4:103260693..103262212-chrX:77930319..77931843,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138821	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10019247	0.82[EUR][1000 genomes]
rs10461136	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097776	0.91[EUR][1000 genomes]
rs11097780	0.82[EUR][1000 genomes]
rs1117520	0.95[CEU][hapmap]
rs1117522	0.93[EUR][1000 genomes]
rs1159788	0.93[EUR][1000 genomes]
rs11728286	0.93[EUR][1000 genomes]
rs11730379	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11730944	0.90[EUR][1000 genomes]
rs11730958	0.92[EUR][1000 genomes]
rs11931217	0.89[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11935847	0.92[EUR][1000 genomes]
rs12499248	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500141	0.82[EUR][1000 genomes]
rs12505568	0.82[EUR][1000 genomes]
rs12510124	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs13104988	0.82[EUR][1000 genomes]
rs13107285	0.93[EUR][1000 genomes]
rs13112930	0.86[EUR][1000 genomes]
rs13114804	0.82[EUR][1000 genomes]
rs13125848	0.92[EUR][1000 genomes]
rs13147260	0.85[EUR][1000 genomes]
rs1381894	0.86[EUR][1000 genomes]
rs1381895	0.86[EUR][1000 genomes]
rs1381897	0.85[EUR][1000 genomes]
rs1381899	0.93[EUR][1000 genomes]
rs1462943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462948	0.93[EUR][1000 genomes]
rs1462949	0.92[EUR][1000 genomes]
rs1462950	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1462951	0.93[EUR][1000 genomes]
rs1462952	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1599684	0.93[EUR][1000 genomes]
rs1599685	0.93[EUR][1000 genomes]
rs1599686	0.84[EUR][1000 genomes]
rs1870952	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2054393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086004	0.93[EUR][1000 genomes]
rs2126625	0.94[EUR][1000 genomes]
rs233820	0.81[JPT][hapmap]
rs34663993	0.84[ASN][1000 genomes]
rs34835832	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4557261	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699012	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699019	0.92[EUR][1000 genomes]
rs4699021	0.92[EUR][1000 genomes]
rs4699024	0.92[EUR][1000 genomes]
rs4699026	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs56202729	0.86[ASN][1000 genomes]
rs62329487	0.86[ASN][1000 genomes]
rs6814302	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs6835467	0.92[EUR][1000 genomes]
rs6843751	0.92[EUR][1000 genomes]
rs6844796	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6848517	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs7436937	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7657947	0.92[EUR][1000 genomes]
rs7661593	0.93[EUR][1000 genomes]
rs7683109	0.92[EUR][1000 genomes]
rs962399	0.93[EUR][1000 genomes]
rs984055	0.92[EUR][1000 genomes]
rs985989	0.94[CHB][hapmap];0.86[JPT][hapmap]

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	nsv428447	chr4:103103730-103262107	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103224000-103263600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:103237400-103264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:103241200-103263600	Weak transcription	Liver	Liver
4	chr4:103241200-103263600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:103242600-103263400	Weak transcription	Lung	lung
6	chr4:103244000-103262000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:103244000-103262000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:103252000-103261600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:103255000-103264600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:103256000-103263400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:103257200-103262000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:103257200-103262600	Weak transcription	Fetal Thymus	thymus
13	chr4:103257400-103261600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:103257600-103261600	Weak transcription	Dnd41	blood
15	chr4:103257600-103261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:103257600-103262000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:103257600-103264200	Weak transcription	A549	lung
18	chr4:103257800-103262200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:103258000-103262000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:103258200-103262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:103258800-103261400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:103258800-103261600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:103258800-103262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:103258800-103262400	Weak transcription	Primary T cells from cord blood	blood
25	chr4:103258800-103263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:103258800-103265000	Weak transcription	Pancreas	Pancrea
27	chr4:103259000-103261600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:103259000-103261800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:103259000-103263400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:103259000-103264400	Weak transcription	Primary B cells from cord blood	blood
31	chr4:103259000-103265000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:103259400-103263600	Weak transcription	Thymus	Thymus
33	chr4:103259600-103263600	Enhancers	K562	blood
34	chr4:103259800-103262200	Active TSS	GM12878-XiMat	blood
35	chr4:103259800-103262600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:103260200-103262600	Enhancers	Hela-S3	cervix
37	chr4:103260400-103261400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:103260400-103262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:103260400-103264000	Weak transcription	NHEK	skin
40	chr4:103260600-103261400	Enhancers	Placenta	Placenta
41	chr4:103260800-103262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:103260800-103263200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:103260800-103264000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:103260800-103264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:103261000-103261400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:103261000-103262000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:103261000-103263800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:103261000-103264000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:103261000-103264000	Weak transcription	HMEC	breast
50	chr4:103261000-103264400	Weak transcription	Monocytes-CD14+_RO01746	blood

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