Variant report

Variant	rs6718305
Chromosome Location	chr2:190309769-190309770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190307972..190310457-chr2:190436965..190439682,2	K562	blood:
2	chr2:190308951..190311414-chr2:190525622..190528539,2	MCF-7	breast:
3	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
4	chr2:190307453..190310457-chr2:190438182..190441040,3	K562	blood:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16831348	0.86[AFR][1000 genomes]
rs16831360	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831411	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831444	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16831458	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17271043	0.90[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs62187075	0.80[AFR][1000 genomes]
rs62187077	0.80[AFR][1000 genomes]
rs62187078	0.80[AFR][1000 genomes]
rs6712164	0.88[AFR][1000 genomes]
rs6715144	0.82[AFR][1000 genomes]
rs6718570	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573786	0.88[AFR][1000 genomes]
rs7588990	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190309800	Enhancers	Small Intestine	intestine
2	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
5	chr2:190307000-190309800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:190307200-190309800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190307200-190312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
11	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:190307400-190311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:190307400-190312200	Weak transcription	Placenta	Placenta
14	chr2:190307400-190312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:190307400-190312800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:190307400-190312800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
18	chr2:190307600-190309800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:190307600-190310000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:190307600-190311000	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:190307600-190311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:190307600-190312200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:190307600-190312200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:190307600-190312600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:190307600-190312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:190307600-190312800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
31	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:190307600-190315000	Weak transcription	Gastric	stomach
33	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
36	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
37	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:190307600-190317400	Weak transcription	Lung	lung
39	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:190307600-190323400	Weak transcription	Ovary	ovary
41	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
42	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
43	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
44	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
46	chr2:190307800-190309800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:190307800-190310600	Weak transcription	NHLF	lung
48	chr2:190307800-190311000	Weak transcription	NH-A	brain
49	chr2:190307800-190311200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:190307800-190312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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