Variant report

Variant	rs6688648
Chromosome Location	chr1:223940165-223940166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223888703..223890245-chr1:223939416..223941061,2	K562	blood:
2	chr1:223900402..223903093-chr1:223939885..223943104,3	K562	blood:
3	chr1:223937037..223939857-chr1:223940065..223944617,5	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10753427	1.00[AMR][1000 genomes]
rs10799364	1.00[AMR][1000 genomes]
rs10915854	1.00[AMR][1000 genomes]
rs10916015	1.00[AMR][1000 genomes]
rs1222144	1.00[AMR][1000 genomes]
rs1361915	1.00[AMR][1000 genomes]
rs1539703	1.00[AMR][1000 genomes]
rs16842210	1.00[AMR][1000 genomes]
rs16842251	1.00[AMR][1000 genomes]
rs1857549	1.00[AMR][1000 genomes]
rs1892071	1.00[AMR][1000 genomes]
rs1892074	1.00[AMR][1000 genomes]
rs1892075	1.00[AMR][1000 genomes]
rs1977898	1.00[AMR][1000 genomes]
rs2000317	1.00[AMR][1000 genomes]
rs2096343	1.00[AMR][1000 genomes]
rs2154115	1.00[AMR][1000 genomes]
rs2186005	1.00[AMR][1000 genomes]
rs2404288	1.00[AMR][1000 genomes]
rs25655	1.00[AMR][1000 genomes]
rs28370086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370105	1.00[AMR][1000 genomes]
rs28370108	1.00[AMR][1000 genomes]
rs4653792	1.00[AMR][1000 genomes]
rs4653866	1.00[AMR][1000 genomes]
rs4653869	1.00[AMR][1000 genomes]
rs6422641	1.00[AMR][1000 genomes]
rs7538151	1.00[AMR][1000 genomes]
rs7554290	1.00[AMR][1000 genomes]
rs9660081	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv520609	chr1:223931411-223947081	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv521758	chr1:223931411-223954080	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223931200-223954800	Strong transcription	HMEC	breast
2	chr1:223931400-223954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:223935800-223952600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:223936600-223954800	Strong transcription	NHEK	skin
5	chr1:223936800-223942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:223936800-223947400	Weak transcription	Fetal Brain Male	brain
7	chr1:223936800-223954400	Strong transcription	HSMM	muscle
8	chr1:223937000-223940200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:223937000-223940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:223937000-223940200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:223937000-223940200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:223937000-223940200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:223937000-223940200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:223937000-223940400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:223937000-223940600	Weak transcription	Small Intestine	intestine
16	chr1:223937000-223940800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:223937000-223943200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:223937000-223943400	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr1:223937000-223945400	Strong transcription	Hela-S3	cervix
20	chr1:223937000-223947600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:223937000-223948000	Strong transcription	Lung	lung
22	chr1:223937000-223948200	Weak transcription	Right Atrium	heart
23	chr1:223937000-223951200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:223937000-223954400	Strong transcription	Colonic Mucosa	Colon
25	chr1:223937000-223954400	Strong transcription	Esophagus	oesophagus
26	chr1:223937000-223954400	Strong transcription	Gastric	stomach
27	chr1:223937000-223954800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:223937000-223954800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:223937000-223954800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:223937000-223954800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:223937000-223954800	Strong transcription	NHDF-Ad	bronchial
32	chr1:223937000-223954800	Strong transcription	Osteobl	bone
33	chr1:223937000-223957200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:223937000-223959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:223937000-223960000	Weak transcription	Thymus	Thymus
36	chr1:223937200-223940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:223937200-223940200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:223937200-223940400	Weak transcription	Primary B cells from cord blood	blood
39	chr1:223937200-223940600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:223937200-223942400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:223937200-223943000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:223937200-223948600	Strong transcription	HUVEC	blood vessel
43	chr1:223937200-223951800	Strong transcription	HSMMtube	muscle
44	chr1:223937200-223952600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:223937200-223953000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:223937200-223954800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:223937200-223954800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:223937200-223954800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:223937200-223954800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:223937200-223958400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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