Variant report

Variant	rs3768668
Chromosome Location	chr2:30374448-30374449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
2	chr2:30372153..30375046-chr2:30381081..30382923,2	MCF-7	breast:
3	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12052275	0.83[EUR][1000 genomes]
rs1509579	1.00[EUR][1000 genomes]
rs17009154	1.00[EUR][1000 genomes]
rs17009178	1.00[EUR][1000 genomes]
rs17009181	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2361751	0.94[EUR][1000 genomes]
rs3768669	1.00[EUR][1000 genomes]
rs3768670	1.00[EUR][1000 genomes]
rs3768671	0.88[EUR][1000 genomes]
rs4951982	0.81[EUR][1000 genomes]
rs4952093	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952094	0.94[EUR][1000 genomes]
rs57641749	0.81[EUR][1000 genomes]
rs6547994	1.00[EUR][1000 genomes]
rs6718385	1.00[EUR][1000 genomes]
rs7585724	1.00[EUR][1000 genomes]
rs7603389	0.81[EUR][1000 genomes]
rs7608690	0.94[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371000-30380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:30371000-30380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:30371400-30374800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:30371400-30374800	Genic enhancers	HSMM	muscle
5	chr2:30371400-30375200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:30371400-30380000	Weak transcription	Esophagus	oesophagus
7	chr2:30371400-30380000	Weak transcription	Dnd41	blood
8	chr2:30371400-30380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:30371600-30374800	Genic enhancers	Primary T cells from cord blood	blood
11	chr2:30371600-30375400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30371600-30376000	Weak transcription	Pancreas	Pancrea
13	chr2:30371600-30380200	Weak transcription	Colonic Mucosa	Colon
14	chr2:30371800-30374800	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:30372000-30374600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:30372000-30375000	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:30372200-30378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:30372400-30374600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:30372400-30378400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:30372800-30375000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:30372800-30375000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30372800-30376200	Weak transcription	Gastric	stomach
24	chr2:30372800-30376600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:30372800-30377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:30372800-30378600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:30372800-30378600	Weak transcription	Stomach Mucosa	stomach
28	chr2:30372800-30379600	Weak transcription	Fetal Stomach	stomach
29	chr2:30372800-30379600	Weak transcription	Lung	lung
30	chr2:30372800-30380200	Weak transcription	Fetal Brain Male	brain
31	chr2:30373000-30374600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:30373000-30374800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:30373000-30375400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:30373000-30376000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:30373000-30376200	Weak transcription	Spleen	Spleen
36	chr2:30373000-30377400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:30373000-30379600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:30373200-30374800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:30373200-30374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:30373200-30375000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:30373200-30375000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:30373200-30375000	Genic enhancers	Primary B cells from cord blood	blood
43	chr2:30373200-30375600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:30373200-30378600	Weak transcription	Fetal Kidney	kidney
45	chr2:30373200-30379400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:30373200-30379600	Weak transcription	Brain Anterior Caudate	brain
47	chr2:30373200-30379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:30373200-30379800	Weak transcription	Fetal Brain Female	brain
49	chr2:30373200-30380200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:30373200-30380400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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