Variant report

Variant	rs2517611
Chromosome Location	chr6:30169327-30169328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30168209..30170458-chr6:30175226..30176879,2	MCF-7	breast:
2	chr6:30164991..30167307-chr6:30168742..30170547,2	K562	blood:
3	chr6:30168637..30170794-chr6:30170971..30172497,2	K562	blood:
4	chr6:30164021..30166889-chr6:30166891..30170637,4	MCF-7	breast:
5	chr6:30168287..30170293-chr6:30179032..30181257,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234127	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1117487	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1117488	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1117490	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11969573	0.92[ASN][1000 genomes]
rs1573295	0.80[AFR][1000 genomes]
rs2021722	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2023475	0.92[ASN][1000 genomes]
rs2106070	0.80[AFR][1000 genomes]
rs2106071	0.80[AFR][1000 genomes]
rs2284166	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2428503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2517590	0.92[ASN][1000 genomes]
rs2517608	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2517610	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2517614	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2523714	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2523716	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2523721	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2523722	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523741	0.87[ASN][1000 genomes]
rs28360014	0.92[ASN][1000 genomes]
rs2844776	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844784	0.87[ASN][1000 genomes]
rs3094132	0.80[AFR][1000 genomes]
rs3094139	0.80[AFR][1000 genomes]
rs3094140	0.80[AFR][1000 genomes]
rs3094614	0.81[AFR][1000 genomes]
rs3130381	0.81[AFR][1000 genomes]
rs3130382	0.81[AFR][1000 genomes]
rs3130383	0.81[AFR][1000 genomes]
rs3130384	0.81[AFR][1000 genomes]
rs3130386	0.81[AFR][1000 genomes]
rs3130388	0.80[AFR][1000 genomes]
rs3132668	0.80[AFR][1000 genomes]
rs3132671	0.81[AFR][1000 genomes]
rs3132673	0.80[AFR][1000 genomes]
rs3132674	0.80[AFR][1000 genomes]
rs55957413	0.92[ASN][1000 genomes]
rs59975149	0.92[ASN][1000 genomes]
rs61154150	0.92[ASN][1000 genomes]
rs885912	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs916568	0.80[AFR][1000 genomes]
rs916571	0.80[AFR][1000 genomes]
rs971570	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2517611	HLA-G	cis	multi-tissue	Pritchard
rs2517611	BTN2A1	cis	parietal	SCAN
rs2517611	ZKSCAN3	cis	parietal	SCAN
rs2517611	BTN3A2	cis	multi-tissue	Pritchard
rs2517611	HLA-H	cis	multi-tissue	Pritchard
rs2517611	HLA-DRB1	cis	multi-tissue	Pritchard

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	chr6:30152000-30170600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:30152000-30172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:30153200-30169800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:30156800-30174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30157000-30171800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:30158200-30173600	Weak transcription	Psoas Muscle	Psoas
11	chr6:30158400-30179600	Weak transcription	Fetal Brain Male	brain
12	chr6:30162400-30169400	Strong transcription	Colon Smooth Muscle	Colon
13	chr6:30162600-30170600	Strong transcription	Dnd41	blood
14	chr6:30162800-30169400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:30162800-30169400	Strong transcription	Primary T cells from cord blood	blood
16	chr6:30162800-30169400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:30162800-30170600	Strong transcription	Fetal Thymus	thymus
18	chr6:30163800-30170600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:30166200-30170000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:30166400-30169600	Weak transcription	Stomach Mucosa	stomach
21	chr6:30166600-30169400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:30166600-30169400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:30167000-30173000	Weak transcription	Brain Germinal Matrix	brain
24	chr6:30167000-30178000	Weak transcription	Fetal Brain Female	brain
25	chr6:30167400-30169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:30167800-30170400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr6:30168000-30170000	Genic enhancers	Fetal Intestine Large	intestine
28	chr6:30168000-30170400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:30168000-30170400	Genic enhancers	HepG2	liver
30	chr6:30168200-30169600	Strong transcription	A549	lung
31	chr6:30168200-30170000	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr6:30168200-30170000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:30168200-30170400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:30168200-30171200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:30168400-30169600	Weak transcription	HSMMtube	muscle
36	chr6:30168400-30170400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:30168400-30170600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:30168400-30174000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:30168600-30169400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:30168600-30170400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:30168600-30171200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:30168600-30171600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:30168600-30171800	Weak transcription	Lung	lung
44	chr6:30168600-30172800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:30168600-30174000	Weak transcription	NH-A	brain
46	chr6:30168600-30174000	Weak transcription	NHLF	lung
47	chr6:30168800-30169400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:30168800-30169600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:30168800-30169600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:30168800-30169600	Genic enhancers	Rectal Mucosa Donor 29	rectum

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