Variant report

Variant	rs67130328
Chromosome Location	chr2:173043899-173043900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173041440..173044413-chr2:173328538..173330490,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11893581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898023	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991642	1.00[ASN][1000 genomes]
rs13005487	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014155	1.00[ASN][1000 genomes]
rs13024942	1.00[ASN][1000 genomes]
rs13031965	1.00[ASN][1000 genomes]
rs17219125	1.00[ASN][1000 genomes]
rs34238606	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517309	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928801	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35031958	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123448	1.00[ASN][1000 genomes]
rs35334306	1.00[ASN][1000 genomes]
rs35434134	1.00[ASN][1000 genomes]
rs35768968	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36027698	1.00[ASN][1000 genomes]
rs36078085	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56789785	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723339	1.00[ASN][1000 genomes]
rs6751665	1.00[ASN][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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173038200-173045200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:173038400-173044000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:173038400-173044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:173038600-173044000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:173039000-173044000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:173042200-173044800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173042400-173044000	Weak transcription	Esophagus	oesophagus
8	chr2:173042400-173044200	Enhancers	NH-A	brain
9	chr2:173042400-173044800	Enhancers	NHEK	skin
10	chr2:173042600-173045000	Enhancers	HMEC	breast
11	chr2:173042600-173045600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:173042800-173045000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:173042800-173045200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:173042800-173046400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:173043000-173046800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:173043200-173044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:173043200-173044400	Enhancers	Left Ventricle	heart
18	chr2:173043200-173044400	Enhancers	Right Atrium	heart
19	chr2:173043200-173046600	Weak transcription	Hela-S3	cervix
20	chr2:173043400-173044400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:173043600-173044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:173043600-173045000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:173043600-173045400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:173043800-173044000	Weak transcription	Fetal Thymus	thymus
25	chr2:173043800-173044200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:173043800-173044200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:173043800-173044200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:173043800-173044400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:173043800-173044400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:173043800-173044400	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:173043800-173044400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:173043800-173044600	Enhancers	Spleen	Spleen
33	chr2:173043800-173044800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:173043800-173045000	Enhancers	Primary T cells from cord blood	blood
35	chr2:173043800-173045000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:173043800-173045400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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