Variant report

Variant	rs12194370
Chromosome Location	chr6:143178146-143178147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143173616..143176330-chr6:143177113..143179367,3	MCF-7	breast:
2	chr6:143172725..143174891-chr6:143177520..143179547,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10457743	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12190352	0.84[AFR][1000 genomes]
rs12194419	0.91[AFR][1000 genomes]
rs12197240	0.84[AFR][1000 genomes]
rs12203103	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12216122	1.00[AFR][1000 genomes]
rs1334487	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55994331	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56243433	0.83[ASN][1000 genomes]
rs62430708	0.91[AFR][1000 genomes]
rs763535	0.84[AFR][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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143178600	Weak transcription	Fetal Stomach	stomach
2	chr6:143168400-143179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:143168400-143179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
5	chr6:143169200-143178600	Weak transcription	Fetal Brain Female	brain
6	chr6:143172000-143179400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:143173200-143182400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:143173400-143179600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:143173600-143188200	Weak transcription	NHLF	lung
11	chr6:143173800-143179600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:143174200-143179600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:143174400-143178200	Enhancers	Brain Hippocampus Middle	brain
14	chr6:143174400-143179600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:143174800-143179000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:143175200-143178200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:143175200-143179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:143175200-143179600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr6:143175400-143178600	Weak transcription	Colonic Mucosa	Colon
20	chr6:143175400-143181800	Weak transcription	Spleen	Spleen
21	chr6:143175400-143182800	Weak transcription	Right Ventricle	heart
22	chr6:143175400-143185200	Weak transcription	Right Atrium	heart
23	chr6:143175600-143180600	Enhancers	Dnd41	blood
24	chr6:143175600-143181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:143175600-143181800	Weak transcription	HMEC	breast
26	chr6:143175600-143192000	Weak transcription	NHEK	skin
27	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:143175800-143178200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr6:143175800-143178600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:143175800-143179400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:143175800-143179600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:143175800-143179800	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:143176000-143178400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:143176200-143178200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:143176200-143179600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr6:143176200-143182800	Weak transcription	Small Intestine	intestine
38	chr6:143176200-143185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:143176400-143179000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:143176400-143179600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:143176600-143178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:143176600-143178600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:143176600-143178600	Weak transcription	Placenta	Placenta
44	chr6:143176600-143179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:143176600-143179000	Weak transcription	Left Ventricle	heart
46	chr6:143176600-143179000	Weak transcription	Lung	lung
47	chr6:143176600-143179400	Weak transcription	Pancreas	Pancrea
48	chr6:143176600-143179600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:143176600-143185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:143176600-143186800	Weak transcription	Esophagus	oesophagus

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