Variant report

Variant	rs61647968
Chromosome Location	chr12:104477674-104477675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104475408..104478503-chr12:104481341..104484016,3	K562	blood:
2	chr12:104476557..104478929-chr12:104484646..104487240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507174	0.82[ASN][1000 genomes]
rs10507175	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11111885	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11111898	0.85[ASN][1000 genomes]
rs12422505	0.82[ASN][1000 genomes]
rs12423684	0.85[ASN][1000 genomes]
rs12423844	0.82[ASN][1000 genomes]
rs12424943	0.85[ASN][1000 genomes]
rs12426862	0.82[ASN][1000 genomes]
rs12427339	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12582966	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12825521	0.82[ASN][1000 genomes]
rs17192854	0.85[ASN][1000 genomes]
rs17805748	0.85[ASN][1000 genomes]
rs17805766	0.85[ASN][1000 genomes]
rs35142441	0.82[ASN][1000 genomes]
rs3850022	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340124	0.82[ASN][1000 genomes]
rs56074043	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57381687	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59079741	0.82[ASN][1000 genomes]
rs59644448	0.85[ASN][1000 genomes]
rs61937639	0.85[ASN][1000 genomes]
rs61937641	0.84[ASN][1000 genomes]
rs61937642	0.84[ASN][1000 genomes]
rs61939180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939183	0.85[ASN][1000 genomes]
rs61939188	0.84[ASN][1000 genomes]
rs61939190	0.82[ASN][1000 genomes]
rs61939192	0.82[ASN][1000 genomes]
rs7979648	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
5	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104460000-104496800	Weak transcription	HepG2	liver
8	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
9	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
10	chr12:104460600-104480600	Weak transcription	K562	blood
11	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:104465200-104480000	Weak transcription	A549	lung
13	chr12:104466000-104480600	Weak transcription	Stomach Mucosa	stomach
14	chr12:104466200-104480400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:104469600-104477800	Weak transcription	Psoas Muscle	Psoas
16	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:104471400-104477800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:104472200-104478600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:104472400-104478800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:104472400-104486200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
25	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:104472600-104478400	Strong transcription	Primary B cells from cord blood	blood
27	chr12:104472600-104480800	Strong transcription	Primary T cells from cord blood	blood
28	chr12:104472600-104485400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:104472600-104485800	Strong transcription	Dnd41	blood
30	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:104472800-104485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:104473000-104479800	Weak transcription	Fetal Intestine Small	intestine
33	chr12:104473600-104478800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:104474200-104478600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:104474200-104478600	Strong transcription	NHLF	lung
36	chr12:104474400-104485800	Strong transcription	Osteobl	bone
37	chr12:104474800-104478400	Strong transcription	Fetal Intestine Large	intestine
38	chr12:104475000-104478800	Strong transcription	Left Ventricle	heart
39	chr12:104475000-104485000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:104475400-104478200	Strong transcription	Fetal Stomach	stomach
41	chr12:104475600-104478800	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:104475800-104478800	Strong transcription	Fetal Thymus	thymus
43	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:104476000-104478200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:104476000-104478800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:104476200-104478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:104476200-104478400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:104476200-104478600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:104476200-104478600	Strong transcription	Liver	Liver
50	chr12:104476200-104478600	Strong transcription	Duodenum Mucosa	Duodenum

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