Variant report

Variant	rs6730773
Chromosome Location	chr2:97441643-97441644
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	chr2:97439092..97441796-chr2:97451339..97454243,2	K562	blood:
2	chr2:97425437..97427428-chr2:97441318..97442849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10189727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11682994	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1318597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2678385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4907251	0.88[JPT][hapmap]
rs6576983	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576984	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6727384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741561	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68026712	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72941253	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7582249	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7586317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878919	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs994430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97430200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
3	chr2:97430400-97442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97430400-97452200	Weak transcription	Ovary	ovary
5	chr2:97431400-97451400	Weak transcription	Hela-S3	cervix
6	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
7	chr2:97436000-97444000	Weak transcription	HSMM	muscle
8	chr2:97436200-97452600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:97436400-97442400	Weak transcription	HSMMtube	muscle
10	chr2:97436400-97454000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:97436600-97452400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:97436600-97452600	Weak transcription	HepG2	liver
13	chr2:97436800-97446800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:97437000-97443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:97438200-97442400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:97438200-97452200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:97439000-97448800	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:97439800-97441800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:97440000-97444400	Weak transcription	Right Atrium	heart
20	chr2:97440000-97450800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:97440000-97452000	Weak transcription	Liver	Liver
22	chr2:97440000-97452200	Weak transcription	Left Ventricle	heart
23	chr2:97440000-97454000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:97440000-97454000	Weak transcription	Pancreas	Pancrea
25	chr2:97440000-97454200	Weak transcription	Fetal Stomach	stomach
26	chr2:97440000-97459600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:97440200-97447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:97440200-97449000	Weak transcription	Primary T cells from cord blood	blood
30	chr2:97440200-97453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:97440200-97453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:97440400-97442200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:97440400-97442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:97440400-97442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:97440400-97443800	Strong transcription	Fetal Intestine Small	intestine
36	chr2:97440400-97447200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:97440400-97451400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:97440400-97454000	Weak transcription	Gastric	stomach
39	chr2:97440400-97462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:97440400-97462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:97440400-97462800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:97440400-97462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:97440600-97442400	Weak transcription	Primary B cells from cord blood	blood
44	chr2:97440600-97451200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:97440600-97452600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:97441000-97442400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:97441000-97451000	Weak transcription	Colonic Mucosa	Colon
48	chr2:97441000-97463400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:97441200-97442600	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:97441200-97449000	Weak transcription	Rectal Mucosa Donor 29	rectum

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