Variant report

Variant	rs2517614
Chromosome Location	chr6:30163955-30163956
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	chr6:30161796..30164276-chr6:30165247..30166786,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1117487	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1117488	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1117490	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11969573	0.97[ASN][1000 genomes]
rs1573295	0.83[AFR][1000 genomes]
rs2021722	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2023475	0.97[ASN][1000 genomes]
rs2106070	0.83[AFR][1000 genomes]
rs2106071	0.83[AFR][1000 genomes]
rs2284166	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2428503	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517590	0.97[ASN][1000 genomes]
rs2517608	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2517610	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2517611	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523713	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2523714	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2523716	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2523721	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2523722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523741	0.92[ASN][1000 genomes]
rs28360014	0.97[ASN][1000 genomes]
rs2844776	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844784	0.92[ASN][1000 genomes]
rs3094131	0.81[AFR][1000 genomes]
rs3094132	0.83[AFR][1000 genomes]
rs3094139	0.83[AFR][1000 genomes]
rs3094140	0.83[AFR][1000 genomes]
rs3094614	0.83[AFR][1000 genomes]
rs3130381	0.83[AFR][1000 genomes]
rs3130382	0.83[AFR][1000 genomes]
rs3130383	0.83[AFR][1000 genomes]
rs3130384	0.83[AFR][1000 genomes]
rs3130386	0.83[AFR][1000 genomes]
rs3130388	0.83[AFR][1000 genomes]
rs3130389	0.81[AFR][1000 genomes]
rs3130391	0.81[AFR][1000 genomes]
rs3130393	0.82[AFR][1000 genomes]
rs3132665	0.82[AFR][1000 genomes]
rs3132668	0.83[AFR][1000 genomes]
rs3132669	0.81[AFR][1000 genomes]
rs3132671	0.83[AFR][1000 genomes]
rs3132673	0.83[AFR][1000 genomes]
rs3132674	0.83[AFR][1000 genomes]
rs55957413	0.97[ASN][1000 genomes]
rs59975149	0.97[ASN][1000 genomes]
rs61154150	0.97[ASN][1000 genomes]
rs73426382	0.83[ASN][1000 genomes]
rs7383511	0.82[AFR][1000 genomes]
rs885912	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916568	0.83[AFR][1000 genomes]
rs916571	0.83[AFR][1000 genomes]
rs916572	0.81[AFR][1000 genomes]
rs971570	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2517614	BTN2A1	cis	parietal	SCAN
rs2517614	ZKSCAN3	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30145000-30173800	Weak transcription	Right Atrium	heart
2	chr6:30148000-30173000	Weak transcription	Fetal Heart	heart
3	chr6:30150600-30179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:30151800-30170400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:30152000-30166400	Strong transcription	Liver	Liver
6	chr6:30152000-30168000	Strong transcription	Fetal Intestine Large	intestine
7	chr6:30152000-30168200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr6:30152000-30168200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:30152000-30168200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:30152000-30169000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:30152000-30170600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:30152000-30172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:30152200-30167800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30152200-30167800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr6:30152200-30168000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:30152200-30168200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:30152200-30168200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr6:30152200-30168600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:30152200-30169000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:30152400-30167200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:30152400-30168800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:30152400-30169000	Strong transcription	Adipose Nuclei	Adipose
23	chr6:30152600-30166000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:30153200-30169800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:30156600-30164600	Weak transcription	HSMM	muscle
26	chr6:30156800-30174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:30157000-30171800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:30157200-30164600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:30157600-30166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:30158200-30164200	Weak transcription	HUVEC	blood vessel
31	chr6:30158200-30173600	Weak transcription	Psoas Muscle	Psoas
32	chr6:30158400-30179600	Weak transcription	Fetal Brain Male	brain
33	chr6:30158600-30164600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:30158800-30164200	Weak transcription	HMEC	breast
35	chr6:30158800-30164800	Weak transcription	Stomach Mucosa	stomach
36	chr6:30158800-30165400	Weak transcription	Fetal Kidney	kidney
37	chr6:30159000-30164200	Weak transcription	Brain Angular Gyrus	brain
38	chr6:30159000-30164400	Weak transcription	Hela-S3	cervix
39	chr6:30159000-30166800	Weak transcription	A549	lung
40	chr6:30159800-30164600	Weak transcription	Osteobl	bone
41	chr6:30160200-30164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:30160600-30164200	Weak transcription	NHEK	skin
43	chr6:30160600-30164400	Weak transcription	Small Intestine	intestine
44	chr6:30160800-30164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:30161200-30167200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:30161200-30168400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:30161400-30168800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:30161400-30169200	Strong transcription	Placenta	Placenta
49	chr6:30161600-30168400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:30161600-30168800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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