Variant report

Variant	rs11674769
Chromosome Location	chr2:9734278-9734279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9730159..9735372-chr2:9781969..9785269,4	K562	blood:
2	chr2:9731942..9734354-chr2:9738501..9740007,2	K562	blood:
3	chr2:9732098..9735111-chr2:9769658..9771887,3	K562	blood:
4	chr2:9733224..9734834-chr2:9768969..9772281,3	MCF-7	breast:
5	chr2:9732505..9736094-chr2:9769784..9772309,4	MCF-7	breast:
6	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10169269	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929590	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1111976	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11674777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887863	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11890807	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11902264	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12692388	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13415136	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357157	0.97[ASN][1000 genomes]
rs3791748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951115	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4668625	1.00[YRI][hapmap]
rs4669400	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62119427	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6432018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432019	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432020	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432024	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6432025	0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs6706227	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745213	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556678	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556757	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558086	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7565646	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596929	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv214045	chr2:9734039-9742991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
4	chr2:9719200-9747800	Weak transcription	Lung	lung
5	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
6	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:9723400-9736200	Strong transcription	Dnd41	blood
9	chr2:9723600-9734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:9723600-9735400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:9724200-9734600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:9726000-9734400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:9726000-9734400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:9726000-9734800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:9726000-9734800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:9726000-9739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:9726400-9734600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:9728200-9734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:9728200-9734600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:9728400-9734600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:9728400-9739400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:9728600-9734800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:9728600-9739200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:9728800-9739200	Weak transcription	Colonic Mucosa	Colon
26	chr2:9729600-9734600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:9729600-9736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:9729800-9738200	Weak transcription	Thymus	Thymus
29	chr2:9730000-9735200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:9730400-9734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:9730400-9734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:9730400-9734800	Weak transcription	Right Ventricle	heart
33	chr2:9730400-9735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:9730400-9736600	Weak transcription	HUVEC	blood vessel
35	chr2:9730400-9736800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:9730400-9738400	Weak transcription	Fetal Stomach	stomach
37	chr2:9730600-9734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:9730600-9735000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:9730600-9738200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:9730800-9734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:9731000-9734400	Genic enhancers	A549	lung
42	chr2:9731200-9737800	Weak transcription	Fetal Brain Female	brain
43	chr2:9731800-9734400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:9731800-9734600	Weak transcription	NHEK	skin
45	chr2:9731800-9738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:9732000-9736800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:9732200-9734400	Weak transcription	NH-A	brain
48	chr2:9732200-9734600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:9732200-9734600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:9732200-9734600	Weak transcription	Fetal Heart	heart

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