Variant report

Variant	rs309318
Chromosome Location	chr2:7146214-7146215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7057062..7058871-chr2:7146022..7148519,2	K562	blood:
2	chr2:7145702..7147374-chr2:7150946..7152604,2	K562	blood:
3	chr2:7145805..7147436-chr2:7154549..7156380,2	MCF-7	breast:
4	chr2:6932799..6935724-chr2:7143556..7146298,2	MCF-7	breast:
5	chr2:7145702..7149842-chr2:7151104..7154625,5	K562	blood:

Variant related genes	Relation type
ENSG00000151692	Chromatin interaction
ENSG00000228203	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11685858	0.87[YRI][hapmap]
rs2444299	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460401	0.94[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs309309	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs309316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309320	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309324	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs364891	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs388038	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397865	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs407427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs407798	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs436955	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs441766	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs443363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454213	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73141632	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs771273	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
3	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:7132800-7146600	Weak transcription	Fetal Heart	heart
15	chr2:7133400-7147400	Weak transcription	Fetal Kidney	kidney
16	chr2:7133800-7147400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:7133800-7147600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:7133800-7147800	Weak transcription	Fetal Brain Female	brain
19	chr2:7133800-7150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:7134400-7147400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:7135000-7146800	Weak transcription	Lung	lung
22	chr2:7135800-7146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:7137200-7149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:7137400-7160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:7138000-7147000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:7138600-7147600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:7139200-7146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:7139400-7147000	Weak transcription	Fetal Lung	lung
29	chr2:7139600-7147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:7139600-7149800	Weak transcription	Ovary	ovary
31	chr2:7139800-7147000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:7140200-7146400	Weak transcription	Left Ventricle	heart
33	chr2:7140200-7146600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:7140400-7146800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:7140400-7147400	Weak transcription	GM12878-XiMat	blood
36	chr2:7140600-7146800	Weak transcription	Pancreas	Pancrea
37	chr2:7140800-7146800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:7141800-7151200	Strong transcription	Primary T cells from cord blood	blood
39	chr2:7142600-7163000	Weak transcription	Small Intestine	intestine
40	chr2:7143400-7146600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:7143400-7147600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:7143600-7147600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:7143600-7149200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:7143800-7149200	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:7143800-7150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:7144000-7146800	Enhancers	Colon Smooth Muscle	Colon
47	chr2:7144000-7148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:7144200-7146800	Enhancers	Fetal Thymus	thymus
49	chr2:7144200-7154600	Weak transcription	HepG2	liver
50	chr2:7144400-7147600	Weak transcription	Fetal Stomach	stomach

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