Variant report

Variant	rs12644699
Chromosome Location	chr4:174142874-174142875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174141903..174144401-chr4:174146766..174149389,2	K562	blood:
2	chr4:174138498..174140984-chr4:174142749..174145611,3	K562	blood:
3	chr4:174110382..174112789-chr4:174141810..174144337,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10011724	0.88[EUR][1000 genomes]
rs10027708	0.86[EUR][1000 genomes]
rs10031414	0.88[EUR][1000 genomes]
rs1054496	0.86[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1054497	0.86[CEU][hapmap];0.80[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs11737748	0.91[ASW][hapmap];0.95[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];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503879	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12503914	0.88[ASN][1000 genomes]
rs12503939	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639929	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13111572	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13125240	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138282	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574314	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs17322893	0.91[ASW][hapmap];0.95[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];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17323530	0.91[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs1991727	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs2078475	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332654	0.88[EUR][1000 genomes]
rs2332668	0.86[EUR][1000 genomes]
rs2332669	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs28477433	0.88[EUR][1000 genomes]
rs28612521	0.88[EUR][1000 genomes]
rs28709762	0.86[EUR][1000 genomes]
rs2877748	0.91[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs3733477	0.89[EUR][1000 genomes]
rs4377567	0.82[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4419455	0.82[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4561909	0.83[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4643788	0.86[EUR][1000 genomes]
rs4695826	0.87[EUR][1000 genomes]
rs6814857	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs6826412	0.91[EUR][1000 genomes]
rs6835098	0.88[EUR][1000 genomes]
rs6851632	0.91[EUR][1000 genomes]
rs7671278	0.88[EUR][1000 genomes]
rs7672108	1.00[CEU][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs9990666	0.86[EUR][1000 genomes]
rs9997477	0.91[CEU][hapmap];0.91[EUR][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	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv518900	chr4:174130503-174142874	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:174125600-174144800	Weak transcription	Primary B cells from cord blood	blood
6	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
8	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
9	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:174127000-174148600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:174127000-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:174127000-174163600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:174127400-174149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:174131200-174147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:174131800-174156400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:174131800-174168600	Weak transcription	Gastric	stomach
18	chr4:174132800-174150600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:174135800-174146800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:174136600-174158400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:174136800-174157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:174137200-174143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:174139000-174157600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:174139800-174146800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:174140000-174144000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:174140000-174150600	Weak transcription	Primary T cells from cord blood	blood
27	chr4:174140200-174144200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:174140200-174146800	Weak transcription	Fetal Thymus	thymus
29	chr4:174140400-174143000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:174140400-174144200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:174140400-174144200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:174140400-174147600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:174140400-174158200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:174140400-174163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:174140400-174163600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:174140400-174163600	Weak transcription	Aorta	Aorta
37	chr4:174140600-174143000	Weak transcription	A549	lung
38	chr4:174140600-174143000	Weak transcription	HSMM	muscle
39	chr4:174140600-174143000	Weak transcription	NH-A	brain
40	chr4:174140600-174144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:174140600-174145000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:174140600-174146800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:174140600-174147600	Weak transcription	Thymus	Thymus
44	chr4:174140600-174149800	Weak transcription	Dnd41	blood
45	chr4:174140600-174150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:174140600-174158000	Weak transcription	Hela-S3	cervix
47	chr4:174140600-174158200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:174140600-174158600	Weak transcription	HSMMtube	muscle
49	chr4:174141000-174143600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:174141600-174146800	Weak transcription	K562	blood

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