Variant report

Variant	rs7975107
Chromosome Location	chr12:120275080-120275081
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	chr12:120274242..120277869-chr12:120277898..120281203,3	K562	blood:
2	chr12:120269999..120272501-chr12:120274560..120276087,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10744743	0.80[CHB][hapmap]
rs10774514	0.80[CHB][hapmap]
rs10849699	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064878	0.87[EUR][1000 genomes]
rs11064902	0.87[EUR][1000 genomes]
rs11064910	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11064913	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064915	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11064918	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064920	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11064926	0.87[EUR][1000 genomes]
rs11064929	0.87[EUR][1000 genomes]
rs11064930	0.87[EUR][1000 genomes]
rs11064931	0.87[EUR][1000 genomes]
rs11064933	0.87[EUR][1000 genomes]
rs11064934	0.87[EUR][1000 genomes]
rs11064935	0.87[EUR][1000 genomes]
rs11064936	0.87[EUR][1000 genomes]
rs11064937	0.87[EUR][1000 genomes]
rs11064938	0.87[EUR][1000 genomes]
rs11064939	0.87[EUR][1000 genomes]
rs11064940	0.87[EUR][1000 genomes]
rs11064941	0.87[EUR][1000 genomes]
rs11064942	0.87[EUR][1000 genomes]
rs11064944	0.87[EUR][1000 genomes]
rs1182807	0.90[CHB][hapmap]
rs12231774	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280581	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs280584	0.83[ASN][1000 genomes]
rs3742046	0.87[EUR][1000 genomes]
rs377876	0.90[CHB][hapmap]
rs3809307	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs435136	0.80[CHB][hapmap]
rs4767847	0.80[CHB][hapmap]
rs4767848	0.80[CHB][hapmap]
rs4767849	0.80[CHB][hapmap]
rs55680945	0.87[EUR][1000 genomes]
rs57617020	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58261374	0.87[EUR][1000 genomes]
rs58974044	0.87[EUR][1000 genomes]
rs59953935	0.87[EUR][1000 genomes]
rs60782728	0.87[EUR][1000 genomes]
rs7295984	0.83[ASN][1000 genomes]
rs7308076	0.80[CHB][hapmap]
rs740032	0.80[CHB][hapmap]
rs7966776	0.87[EUR][1000 genomes]
rs7971089	0.87[EUR][1000 genomes]
rs7978181	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
10	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:120245200-120276400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:120247200-120285800	Weak transcription	NHLF	lung
15	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
19	chr12:120257400-120277800	Weak transcription	Fetal Brain Female	brain
20	chr12:120258000-120276600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120259200-120311800	Strong transcription	Dnd41	blood
22	chr12:120260000-120280600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:120260600-120285800	Weak transcription	NH-A	brain
24	chr12:120260800-120279200	Weak transcription	HUVEC	blood vessel
25	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
26	chr12:120263000-120279600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:120265000-120276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:120265000-120276600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:120265000-120279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:120265200-120301800	Weak transcription	Osteobl	bone
31	chr12:120266400-120289200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120269400-120279400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:120270600-120276200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:120270800-120276200	Weak transcription	Fetal Stomach	stomach
36	chr12:120270800-120279200	Weak transcription	A549	lung
37	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
38	chr12:120272200-120276400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:120272200-120276400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:120272200-120276600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:120272200-120306800	Weak transcription	HSMM	muscle
42	chr12:120272400-120276400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:120272400-120276400	Weak transcription	Hela-S3	cervix
44	chr12:120272400-120279600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:120272400-120285400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:120273400-120279400	Weak transcription	HepG2	liver
48	chr12:120273400-120280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:120273600-120276200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:120273600-120276400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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