Variant report

Variant	rs10192676
Chromosome Location	chr2:11604980-11604981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11483291..11485571-chr2:11604286..11606431,2	MCF-7	breast:
2	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
3	chr2:11604255..11606398-chr2:11886112..11888104,2	K562	blood:
4	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
5	chr2:11604369..11605890-chr2:11610890..11612437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000162976	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10803737	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929741	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10929745	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929746	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929747	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929748	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929749	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11685543	0.85[ASN][1000 genomes]
rs12988106	0.85[ASN][1000 genomes]
rs13028340	0.94[EUR][1000 genomes]
rs13395890	0.81[ASN][1000 genomes]
rs1369500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369501	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369502	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369503	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34075853	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35047869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35160324	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35606161	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35734540	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35818376	0.85[ASN][1000 genomes]
rs35973068	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4491705	0.93[ASN][1000 genomes]
rs60323348	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60819231	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432195	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432197	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432198	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432201	0.93[EUR][1000 genomes]
rs6705284	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714698	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6719876	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6724082	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6724463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743597	0.92[CEU][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap]
rs6753836	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577942	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
5	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
6	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
7	chr2:11590200-11605400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:11593400-11605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:11593800-11605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:11593800-11605200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:11594000-11605000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:11594000-11605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:11594200-11605000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:11594200-11605000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:11595200-11605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:11595600-11605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:11597000-11605000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:11597000-11605200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:11597000-11605200	Weak transcription	NH-A	brain
20	chr2:11599600-11605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:11599600-11605200	Weak transcription	HSMMtube	muscle
22	chr2:11599600-11605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11600400-11605200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:11601800-11605400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11602000-11605400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:11602200-11605400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:11602600-11605200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:11603000-11605000	Weak transcription	HSMM	muscle
29	chr2:11603000-11605200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:11603200-11605000	Enhancers	Brain Anterior Caudate	brain
31	chr2:11603200-11605000	Genic enhancers	Osteobl	bone
32	chr2:11603200-11605600	Enhancers	Spleen	Spleen
33	chr2:11603400-11605200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:11603600-11605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:11603600-11605000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr2:11603600-11605400	Enhancers	Brain Substantia Nigra	brain
37	chr2:11603800-11605400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:11603800-11605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:11603800-11605400	Enhancers	Small Intestine	intestine
40	chr2:11603800-11605800	Enhancers	Fetal Heart	heart
41	chr2:11604000-11605000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:11604000-11605000	Transcr. at gene 5' and 3'	A549	lung
43	chr2:11604000-11605000	Enhancers	HMEC	breast
44	chr2:11604000-11605200	Genic enhancers	NHEK	skin
45	chr2:11604000-11605400	Enhancers	Fetal Brain Male	brain
46	chr2:11604200-11605400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:11604200-11605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:11604200-11605400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:11604200-11605400	Enhancers	Lung	lung
50	chr2:11604200-11605600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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