Variant report

Variant	rs1868901
Chromosome Location	chr2:173479797-173479798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173417386..173419457-chr2:173477880..173480867,2	K562	blood:
2	chr2:173474539..173476393-chr2:173478394..173481153,2	K562	blood:
3	chr2:173479500..173482297-chr2:173482570..173485095,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1010752	0.85[ASN][1000 genomes]
rs10181851	0.86[ASN][1000 genomes]
rs1075638	0.92[ASN][1000 genomes]
rs10930562	0.88[ASN][1000 genomes]
rs10930565	0.92[ASN][1000 genomes]
rs10930566	0.83[ASN][1000 genomes]
rs10930567	0.83[ASN][1000 genomes]
rs10930569	0.80[ASN][1000 genomes]
rs1097478	0.88[ASN][1000 genomes]
rs1133602	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904158	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12465512	0.83[ASN][1000 genomes]
rs12476204	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12693008	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015260	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13019331	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13024563	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401676	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1531150	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16860737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860741	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869923	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599260	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599261	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599262	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599263	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599264	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599265	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599266	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599268	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2606062	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2606063	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2606064	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606065	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2606066	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2606067	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2606070	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34051646	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35892983	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3765065	0.86[ASN][1000 genomes]
rs3769321	0.89[ASN][1000 genomes]
rs62167835	0.91[ASN][1000 genomes]
rs6710129	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6718681	0.83[ASN][1000 genomes]
rs6719140	0.83[ASN][1000 genomes]
rs6731354	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733679	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6738196	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6752386	0.87[ASN][1000 genomes]
rs7584769	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs836590	0.95[ASN][1000 genomes]
rs836608	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836614	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836616	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836617	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836628	0.83[ASN][1000 genomes]
rs836629	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs836630	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs836631	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs836634	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173431400-173480600	Weak transcription	Gastric	stomach
2	chr2:173444400-173480200	Strong transcription	HepG2	liver
3	chr2:173452000-173479800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:173454400-173479800	Weak transcription	Esophagus	oesophagus
5	chr2:173454400-173489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:173454800-173488200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:173455200-173480200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:173457200-173480000	Strong transcription	Dnd41	blood
9	chr2:173461400-173488800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:173461400-173504200	Weak transcription	NHEK	skin
11	chr2:173462200-173481200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:173462200-173481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:173462400-173480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:173462800-173480800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:173462800-173482400	Weak transcription	Hela-S3	cervix
17	chr2:173462800-173488200	Weak transcription	HSMM	muscle
18	chr2:173463400-173489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:173464800-173480000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:173465400-173480000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:173465400-173480000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:173465400-173480600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:173465600-173495200	Weak transcription	Ovary	ovary
24	chr2:173466000-173483000	Weak transcription	Left Ventricle	heart
25	chr2:173468000-173488000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:173468400-173481000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:173471200-173480600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:173471800-173495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:173472000-173481200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:173472400-173488800	Weak transcription	Fetal Thymus	thymus
31	chr2:173472600-173481000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
33	chr2:173474400-173488600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:173474400-173489800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:173474600-173481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:173474600-173485200	Weak transcription	K562	blood
37	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:173475400-173487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:173477200-173480000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:173477800-173480000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:173477800-173480000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:173477800-173480000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:173478000-173479800	Weak transcription	Pancreas	Pancrea
44	chr2:173478200-173480000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:173478200-173488200	Weak transcription	NHLF	lung
46	chr2:173478400-173479800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr2:173478400-173480000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:173478400-173480200	Strong transcription	GM12878-XiMat	blood
49	chr2:173478800-173480400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:173478800-173496800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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