Variant report

Variant	rs6707685
Chromosome Location	chr2:100092673-100092674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
2	chr2:100080735..100084657-chr2:100090928..100093443,3	K562	blood:
3	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
4	chr2:100087595..100089096-chr2:100090818..100093356,2	K562	blood:
5	chr2:100082191..100084657-chr2:100091943..100094929,2	K562	blood:
6	chr2:100088510..100094256-chr2:100103985..100108648,6	K562	blood:
7	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
8	chr2:100091441..100093893-chr2:100095526..100097800,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542367	1.00[EUR][1000 genomes]
rs17022584	1.00[EUR][1000 genomes]
rs17022741	1.00[AMR][1000 genomes]
rs2167339	0.83[AMR][1000 genomes]
rs3087387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55720283	1.00[EUR][1000 genomes]
rs56364129	1.00[EUR][1000 genomes]
rs56684522	0.83[AMR][1000 genomes]
rs57093686	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57599963	0.83[AMR][1000 genomes]
rs57668619	0.83[AMR][1000 genomes]
rs57969550	0.83[AMR][1000 genomes]
rs58226642	1.00[AMR][1000 genomes]
rs58780429	0.83[AMR][1000 genomes]
rs59311105	1.00[AMR][1000 genomes]
rs59753430	1.00[AMR][1000 genomes]
rs59859749	1.00[AMR][1000 genomes]
rs60633946	1.00[AMR][1000 genomes]
rs61098335	1.00[EUR][1000 genomes]
rs6723062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761053	1.00[AMR][1000 genomes]
rs6761507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964151	0.83[AMR][1000 genomes]
rs73964152	1.00[AMR][1000 genomes]
rs73964155	1.00[AMR][1000 genomes]
rs73964157	0.83[AMR][1000 genomes]
rs73964158	1.00[AMR][1000 genomes]
rs73964815	1.00[EUR][1000 genomes]
rs7568990	1.00[AMR][1000 genomes]
rs7570405	1.00[AMR][1000 genomes]
rs7571186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7595242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1811477	chr2:100089078-100105013	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:100076600-100094800	Weak transcription	Spleen	Spleen
5	chr2:100076600-100104200	Weak transcription	NHLF	lung
6	chr2:100078600-100096800	Weak transcription	NH-A	brain
7	chr2:100078800-100093200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
9	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:100079200-100093000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:100079200-100096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:100079200-100098400	Weak transcription	NHDF-Ad	bronchial
14	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
16	chr2:100080600-100098000	Weak transcription	Dnd41	blood
17	chr2:100080800-100103200	Weak transcription	HSMM	muscle
18	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:100086200-100093200	Weak transcription	Psoas Muscle	Psoas
21	chr2:100086400-100102000	Weak transcription	Thymus	Thymus
22	chr2:100087800-100095000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:100087800-100098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:100088000-100094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:100088200-100098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:100088600-100093400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:100089200-100094600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:100089200-100094600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:100089200-100099800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:100089400-100098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:100089400-100098400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:100089600-100093200	Weak transcription	Small Intestine	intestine
34	chr2:100089600-100102200	Weak transcription	Fetal Thymus	thymus
35	chr2:100089800-100092800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:100090000-100093600	Enhancers	HUVEC	blood vessel
37	chr2:100090200-100093800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:100090400-100093200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:100090400-100094400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:100090400-100094600	Weak transcription	GM12878-XiMat	blood
41	chr2:100090400-100098400	Weak transcription	Primary T cells from cord blood	blood
42	chr2:100090600-100092800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:100090600-100093600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:100090600-100096800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:100090600-100097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:100090800-100092800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:100090800-100093800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:100090800-100101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:100091000-100093000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:100091000-100093400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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