Variant report

Variant	rs2074769
Chromosome Location	chr7:27788493-27788494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27787733..27790023-chr7:27790214..27791778,2	MCF-7	breast:
2	chr7:27784788..27787305-chr7:27787434..27789144,2	K562	blood:
3	chr7:27784566..27786951-chr7:27787434..27790221,3	K562	blood:
4	chr7:27786993..27792954-chr7:27793164..27797918,6	K562	blood:
5	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
6	chr7:27701253..27703546-chr7:27787214..27789983,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10155851	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10225487	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10267854	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10277437	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486549	0.91[CEU][hapmap]
rs10486559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10951184	0.95[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12666082	0.85[EUR][1000 genomes]
rs12667470	0.95[CEU][hapmap]
rs16874364	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16874393	0.82[CEU][hapmap]
rs16874395	0.82[CEU][hapmap]
rs17150563	0.86[EUR][1000 genomes]
rs17155498	0.95[CEU][hapmap]
rs17155505	0.95[CEU][hapmap]
rs17155537	0.91[CEU][hapmap]
rs17155702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17155943	0.81[EUR][1000 genomes]
rs17155950	0.86[CEU][hapmap]
rs2051830	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2074579	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2107413	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2108309	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2158388	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2192559	0.95[CEU][hapmap]
rs2237339	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237340	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237341	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285931	0.85[EUR][1000 genomes]
rs2299106	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2391450	0.87[CEU][hapmap]
rs2391488	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779473	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3940270	0.85[CEU][hapmap]
rs4719907	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719908	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4722741	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57932688	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58314651	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58857361	0.82[EUR][1000 genomes]
rs62449629	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62449639	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449640	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451077	0.81[EUR][1000 genomes]
rs62451079	0.80[EUR][1000 genomes]
rs62454806	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62454945	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6462048	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462049	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462052	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6462053	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6944251	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6944913	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6971813	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6972821	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72598505	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759268	0.95[CEU][hapmap]
rs7784038	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7801301	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803019	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803227	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7809735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:27780800-27789400	Weak transcription	Lung	lung
3	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27780800-27815200	Weak transcription	Gastric	stomach
7	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
10	chr7:27781200-27788800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:27781200-27789000	Weak transcription	Fetal Thymus	thymus
12	chr7:27781200-27789400	Weak transcription	Thymus	Thymus
13	chr7:27781200-27789600	Weak transcription	Fetal Brain Female	brain
14	chr7:27781200-27790200	Weak transcription	Fetal Brain Male	brain
15	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
16	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:27781400-27789400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:27781400-27789600	Weak transcription	Esophagus	oesophagus
19	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
20	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
22	chr7:27784800-27789000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:27784800-27789000	Weak transcription	Colonic Mucosa	Colon
24	chr7:27784800-27789200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:27784800-27789200	Weak transcription	HSMMtube	muscle
26	chr7:27784800-27790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:27784800-27799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:27785000-27788600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:27785000-27788800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:27785000-27788800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:27785000-27788800	Weak transcription	NHEK	skin
35	chr7:27785000-27789800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:27785000-27789800	Weak transcription	Brain Angular Gyrus	brain
37	chr7:27785000-27793200	Weak transcription	Fetal Heart	heart
38	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
40	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:27785200-27788600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:27785200-27789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:27785200-27789800	Weak transcription	Fetal Lung	lung
44	chr7:27785200-27789800	Weak transcription	Hela-S3	cervix
45	chr7:27785200-27791000	Weak transcription	Fetal Kidney	kidney
46	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:27785800-27788600	Weak transcription	HUVEC	blood vessel
48	chr7:27786200-27788800	Enhancers	Colon Smooth Muscle	Colon
49	chr7:27786200-27789400	Weak transcription	Primary T cells from cord blood	blood
50	chr7:27786800-27788600	Weak transcription	K562	blood

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