Variant report

Variant	rs3769742
Chromosome Location	chr2:99068012-99068013
allele	A/G
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	chr2:99066884..99071356-chr2:99073843..99078046,5	MCF-7	breast:
2	chr2:99060395..99064396-chr2:99064789..99069441,7	MCF-7	breast:
3	chr2:99061125..99063768-chr2:99065947..99069694,5	K562	blood:
4	chr2:99066464..99069419-chr2:99229209..99230942,2	K562	blood:
5	chr2:99066696..99070384-chr2:99081151..99084489,3	K562	blood:
6	chr2:99060106..99062995-chr2:99065666..99070960,6	MCF-7	breast:
7	chr2:99067851..99070035-chr2:99087756..99089685,2	MCF-7	breast:
8	chr2:99063252..99065691-chr2:99066055..99068717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13395005	1.00[ASN][1000 genomes]
rs13429817	1.00[ASN][1000 genomes]
rs17030716	1.00[ASN][1000 genomes]
rs2271041	0.85[ASN][1000 genomes]
rs3171842	1.00[ASN][1000 genomes]
rs3731655	1.00[ASN][1000 genomes]
rs3769704	0.87[ASN][1000 genomes]
rs3769720	1.00[ASN][1000 genomes]
rs3769722	1.00[ASN][1000 genomes]
rs3769731	1.00[ASN][1000 genomes]
rs3769732	1.00[ASN][1000 genomes]
rs3820944	1.00[ASN][1000 genomes]
rs41460047	1.00[ASN][1000 genomes]
rs7602422	0.80[ASN][1000 genomes]
rs9631039	1.00[ASN][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99062400-99068400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99062600-99068600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99062800-99070600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:99062800-99070800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:99063000-99068400	Weak transcription	Ovary	ovary
6	chr2:99063000-99068400	Weak transcription	Pancreas	Pancrea
7	chr2:99063000-99068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:99063000-99068600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:99063000-99070600	Weak transcription	Placenta	Placenta
10	chr2:99063000-99071600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:99063000-99071800	Weak transcription	Liver	Liver
12	chr2:99063200-99070200	Weak transcription	Gastric	stomach
13	chr2:99063600-99068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:99063600-99070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:99063600-99070600	Weak transcription	Fetal Stomach	stomach
16	chr2:99063600-99070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:99063600-99070800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:99063600-99070800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:99063600-99071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:99063600-99071000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:99063600-99072200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:99063600-99072200	Enhancers	Fetal Thymus	thymus
23	chr2:99063600-99072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:99063600-99075600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:99063800-99070600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:99063800-99070600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:99063800-99072200	Weak transcription	Aorta	Aorta
28	chr2:99064000-99068200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:99064000-99069200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:99064000-99071800	Weak transcription	Brain Substantia Nigra	brain
31	chr2:99064200-99068600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:99064400-99071800	Weak transcription	Fetal Brain Male	brain
33	chr2:99064600-99070800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:99065400-99070200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:99065400-99071200	Enhancers	Thymus	Thymus
36	chr2:99065400-99071800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:99065600-99068200	Weak transcription	K562	blood
38	chr2:99065600-99068400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:99065600-99068400	Weak transcription	Spleen	Spleen
40	chr2:99065600-99068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:99065600-99068600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:99065600-99071000	Weak transcription	Small Intestine	intestine
43	chr2:99065600-99072000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr2:99065600-99072200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:99065600-99079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:99065600-99079600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:99065800-99068600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:99065800-99070600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:99065800-99070600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:99065800-99071400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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