Variant report

Variant	rs2761938
Chromosome Location	chr13:30407996-30407997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30407821..30411668-chr13:30422825..30425033,3	MCF-7	breast:
2	chr13:30407057..30408678-chr13:30687938..30689811,2	MCF-7	breast:
3	chr13:30406067..30409440-chr13:30410135..30412697,3	K562	blood:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1058650	0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs11147398	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12872400	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1323931	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1410110	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1854176	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1927193	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2025604	0.85[ASN][1000 genomes]
rs2182129	0.91[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2234416	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs2388246	0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2388247	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2487664	0.86[AFR][1000 genomes]
rs2761939	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761940	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278034	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2892463	0.87[ASW][hapmap];0.83[GIH][hapmap];0.86[YRI][hapmap]
rs35541102	0.87[ASN][1000 genomes]
rs4083610	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238128	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4265673	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4297554	0.86[ASN][1000 genomes]
rs4769772	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4769775	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490429	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490430	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7320474	0.86[ASN][1000 genomes]
rs7326253	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330356	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7335148	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7342470	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765404	0.85[ASN][1000 genomes]
rs7981622	0.89[ASN][1000 genomes]
rs7995666	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9314972	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9314973	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9314974	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9314978	0.86[ASN][1000 genomes]
rs9506226	0.85[ASN][1000 genomes]
rs9506229	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9506231	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9506233	0.85[ASN][1000 genomes]
rs9508550	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9508553	0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9508554	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508557	0.86[ASN][1000 genomes]
rs9508558	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9508559	0.87[ASN][1000 genomes]
rs9508560	0.83[ASN][1000 genomes]
rs9508564	0.85[ASN][1000 genomes]
rs9508568	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9550494	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9551739	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9551744	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551751	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9551753	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs9578136	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs9578139	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
3	chr13:30391200-30410600	Weak transcription	Ovary	ovary
4	chr13:30392000-30415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:30394000-30410600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:30394200-30413400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:30394400-30410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:30402000-30409400	Weak transcription	Primary B cells from cord blood	blood
9	chr13:30404400-30408400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:30404600-30415800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:30404800-30415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:30404800-30418200	Weak transcription	HSMM	muscle
14	chr13:30405000-30410600	Weak transcription	Osteobl	bone
15	chr13:30405200-30408800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr13:30405200-30409400	Weak transcription	Adipose Nuclei	Adipose
17	chr13:30405200-30409400	Weak transcription	Brain Anterior Caudate	brain
18	chr13:30405200-30410000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:30405200-30415800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:30405400-30410600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:30405400-30419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:30405600-30414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:30405800-30408400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr13:30406000-30415000	Weak transcription	NHEK	skin
25	chr13:30406000-30419600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr13:30406200-30408000	Enhancers	Fetal Intestine Large	intestine
27	chr13:30406200-30408200	Enhancers	Duodenum Mucosa	Duodenum
28	chr13:30406200-30410600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:30406200-30417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:30406800-30408000	Enhancers	Colon Smooth Muscle	Colon
31	chr13:30406800-30408400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:30406800-30408400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr13:30406800-30408400	Enhancers	Psoas Muscle	Psoas
34	chr13:30406800-30409800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:30407000-30408200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:30407000-30408200	Enhancers	Fetal Heart	heart
37	chr13:30407200-30408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:30407200-30409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:30407200-30414200	Weak transcription	Hela-S3	cervix
40	chr13:30407200-30415800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:30407400-30408000	Weak transcription	Pancreas	Pancrea
42	chr13:30407400-30408400	Enhancers	Left Ventricle	heart
43	chr13:30407400-30409400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr13:30407400-30410200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:30407400-30410600	Weak transcription	Liver	Liver
46	chr13:30407400-30412200	Weak transcription	Primary T cells from cord blood	blood
47	chr13:30407400-30415800	Weak transcription	Gastric	stomach
48	chr13:30407400-30419200	Weak transcription	Fetal Intestine Small	intestine
49	chr13:30407400-30419400	Weak transcription	Brain Angular Gyrus	brain
50	chr13:30407400-30419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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