Variant report

Variant	rs6433394
Chromosome Location	chr2:173942906-173942907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
2	chr2:173942302..173944887-chr2:173980344..173983035,2	K562	blood:
3	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11676760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13030567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13031358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13032024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1345005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1548045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1866635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433393	1.00[AMR][1000 genomes]
rs6433396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433397	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713429	1.00[AMR][1000 genomes]
rs6739869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3371931	chr2:173938506-173943004	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173940000-173943400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:173940200-173943000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173940200-173943200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:173940200-173943400	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:173940400-173943000	Active TSS	K562	blood
6	chr2:173940400-173943000	Active TSS	NHLF	lung
7	chr2:173940400-173943200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:173940400-173943200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:173940400-173943200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr2:173940400-173943600	Active TSS	Right Ventricle	heart
11	chr2:173941200-173943200	Active TSS	Right Atrium	heart
12	chr2:173941600-173943000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr2:173941600-173943600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:173941600-173947200	Weak transcription	Gastric	stomach
15	chr2:173941600-173955200	Weak transcription	Lung	lung
16	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
17	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
18	chr2:173941800-173943000	Flanking Active TSS	Osteobl	bone
19	chr2:173941800-173943200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:173942000-173943000	Weak transcription	Small Intestine	intestine
23	chr2:173942000-173943800	Weak transcription	Left Ventricle	heart
24	chr2:173942000-173944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:173942000-173945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:173942000-173946600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:173942000-173951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:173942000-173953000	Weak transcription	Stomach Mucosa	stomach
29	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
32	chr2:173942200-173943000	Active TSS	Adipose Nuclei	Adipose
33	chr2:173942200-173943000	Enhancers	Dnd41	blood
34	chr2:173942200-173943200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:173942200-173943200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:173942200-173943400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:173942200-173943400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:173942200-173943400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:173942200-173943400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:173942200-173943400	Enhancers	HepG2	liver
41	chr2:173942200-173943800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:173942200-173943800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:173942200-173946200	Weak transcription	Primary T cells from cord blood	blood
44	chr2:173942400-173943000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:173942400-173943000	Enhancers	HSMM	muscle
46	chr2:173942400-173943000	Enhancers	HSMMtube	muscle
47	chr2:173942400-173943200	Flanking Active TSS	NHEK	skin
48	chr2:173942400-173943400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:173942400-173943400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:173942400-173943400	Flanking Active TSS	GM12878-XiMat	blood

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