Variant report

Variant	rs6800969
Chromosome Location	chr3:136389244-136389245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136388635..136392149-chr3:136467930..136472508,4	K562	blood:
2	chr3:136380655..136383814-chr3:136385853..136389244,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10513014	0.95[CEU][hapmap]
rs10513016	1.00[CHB][hapmap]
rs12635723	0.89[YRI][hapmap]
rs13433980	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1484250	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16843991	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17365351	1.00[CHB][hapmap]
rs17466223	1.00[CHB][hapmap]
rs1872240	0.83[EUR][1000 genomes]
rs28682370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34962604	0.81[AFR][1000 genomes]
rs34992220	0.86[CEU][hapmap];0.89[YRI][hapmap]
rs35644083	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs3931416	1.00[CHB][hapmap]
rs3932048	0.91[CEU][hapmap];0.87[YRI][hapmap]
rs4336059	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402873	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4678438	0.89[YRI][hapmap]
rs55993001	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047785	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59931907	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6439642	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs66810260	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6763239	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771713	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes]
rs6772759	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773495	1.00[CHB][hapmap]
rs6782151	0.95[CEU][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6788346	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6789329	0.91[CEU][hapmap]
rs6789541	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6799699	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs6806795	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612160	0.95[CEU][hapmap];0.82[YRI][hapmap]
rs7621970	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623824	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626418	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7627292	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629905	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644346	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7644471	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7646563	1.00[CHB][hapmap]
rs7646723	1.00[CHB][hapmap]
rs923001	1.00[CHB][hapmap]
rs9812319	0.95[CEU][hapmap];0.89[YRI][hapmap]
rs9818372	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9820513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828068	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832572	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9834631	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839574	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9845762	0.89[YRI][hapmap]
rs9845950	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9854084	0.81[YRI][hapmap]
rs9869361	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876771	0.80[AMR][1000 genomes]
rs9877786	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881078	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136365000-136396400	Weak transcription	Gastric	stomach
2	chr3:136374400-136390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:136374600-136389400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:136374800-136390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:136375600-136390400	Weak transcription	Dnd41	blood
6	chr3:136376600-136392200	Weak transcription	Placenta	Placenta
7	chr3:136376800-136390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:136377000-136389400	Weak transcription	NHEK	skin
9	chr3:136377000-136390400	Weak transcription	Right Ventricle	heart
10	chr3:136378600-136390400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:136378600-136390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:136378600-136391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:136378600-136393600	Weak transcription	Fetal Lung	lung
14	chr3:136378600-136394000	Weak transcription	Adipose Nuclei	Adipose
15	chr3:136378800-136390600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:136379200-136394000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:136379600-136391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:136380800-136391600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:136381600-136390400	Weak transcription	Spleen	Spleen
20	chr3:136381600-136392400	Weak transcription	Small Intestine	intestine
21	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
22	chr3:136382600-136394200	Weak transcription	Fetal Heart	heart
23	chr3:136383000-136390400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:136383000-136393200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:136383400-136394800	Weak transcription	Ovary	ovary
26	chr3:136383600-136391000	Weak transcription	HepG2	liver
27	chr3:136383600-136395800	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:136383800-136391400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:136383800-136391800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:136384000-136392400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:136384200-136390200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:136384200-136390600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:136384200-136390800	Weak transcription	HSMM	muscle
34	chr3:136384200-136391400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:136384200-136392000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:136384200-136392000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:136384200-136393200	Weak transcription	Brain Anterior Caudate	brain
38	chr3:136384200-136393800	Weak transcription	Brain Substantia Nigra	brain
39	chr3:136384400-136391400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:136384400-136392000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:136385200-136392000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:136385200-136394000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr3:136385200-136398400	Weak transcription	Fetal Intestine Large	intestine
44	chr3:136385400-136392400	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:136385400-136393800	Weak transcription	Stomach Mucosa	stomach
46	chr3:136385600-136394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:136386200-136393600	Weak transcription	NHLF	lung
48	chr3:136386400-136390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:136386400-136390400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:136386400-136391000	Weak transcription	A549	lung

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