Variant report

Variant	rs17059217
Chromosome Location	chr4:174145392-174145393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174139419..174141243-chr4:174143719..174145852,2	K562	blood:
2	chr4:174089332..174093564-chr4:174145332..174150414,5	MCF-7	breast:
3	chr4:174143848..174145501-chr4:174254465..174256673,2	K562	blood:
4	chr4:174138498..174140984-chr4:174142749..174145611,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-8	chr4:174144923-174147928	ucscGeneNc_uc003isx_1

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10005325	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10520255	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs10520256	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11942280	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs13102038	0.82[EUR][1000 genomes]
rs13116270	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13117810	0.81[EUR][1000 genomes]
rs13120215	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13123359	0.85[EUR][1000 genomes]
rs13123399	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13124470	1.00[CEU][hapmap]
rs13141844	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13142524	0.82[EUR][1000 genomes]
rs13150320	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13151627	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs17059205	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17059207	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17059234	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17059235	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1991726	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2332657	0.86[EUR][1000 genomes]
rs2332658	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28361970	0.90[EUR][1000 genomes]
rs28694391	0.98[EUR][1000 genomes]
rs34285915	0.91[AMR][1000 genomes]
rs34718403	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35576170	0.84[AMR][1000 genomes]
rs35644315	0.89[EUR][1000 genomes]
rs35679682	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35730812	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35796775	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36050097	0.84[AMR][1000 genomes]
rs4380500	0.93[EUR][1000 genomes]
rs4608791	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4695827	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4696054	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs62342296	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62342297	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6553686	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6822924	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs6858043	0.87[EUR][1000 genomes]
rs722826	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs722827	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7661977	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7667345	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7668473	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7673747	0.90[EUR][1000 genomes]
rs7681286	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7689781	0.81[CEU][hapmap]
rs9685410	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs9991863	0.86[EUR][1000 genomes]
rs9995556	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

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	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
7	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
8	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:174127000-174148600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:174127000-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:174127000-174163600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:174127400-174149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:174131200-174147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:174131800-174156400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:174131800-174168600	Weak transcription	Gastric	stomach
17	chr4:174132800-174150600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:174135800-174146800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:174136600-174158400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:174136800-174157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:174139000-174157600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:174139800-174146800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:174140000-174150600	Weak transcription	Primary T cells from cord blood	blood
24	chr4:174140200-174146800	Weak transcription	Fetal Thymus	thymus
25	chr4:174140400-174147600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:174140400-174158200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:174140400-174163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:174140400-174163600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:174140400-174163600	Weak transcription	Aorta	Aorta
30	chr4:174140600-174146800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:174140600-174147600	Weak transcription	Thymus	Thymus
32	chr4:174140600-174149800	Weak transcription	Dnd41	blood
33	chr4:174140600-174150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:174140600-174158000	Weak transcription	Hela-S3	cervix
35	chr4:174140600-174158200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:174140600-174158600	Weak transcription	HSMMtube	muscle
37	chr4:174141600-174146800	Weak transcription	K562	blood
38	chr4:174142200-174173400	Weak transcription	Lung	lung
39	chr4:174142600-174148600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:174143400-174146400	Weak transcription	NH-A	brain
41	chr4:174143600-174145800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:174143600-174155000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:174144200-174145400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:174144200-174169000	Weak transcription	Fetal Intestine Large	intestine
45	chr4:174144400-174147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:174144600-174147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:174144800-174145400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:174145000-174145600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:174145200-174155000	Weak transcription	Primary B cells from cord blood	blood

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