Variant report

Variant	rs55920607
Chromosome Location	chr6:160680035-160680036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:160680034-160680084	ProgFib	skin:	n/a
2	chr6:160680034-160680084	PrEC	prostate:	n/a
3	chr6:160680034-160680084	GM19239	blood:	n/a
4	chr6:160680034-160680084	HCPEpiC	choroid plexus:	n/a
5	chr6:160680034-160680084	NH-A	brain:	n/a
6	chr6:160680034-160680084	SK-N-SH	brain:	n/a
7	chr6:160680034-160680084	SK-N-MC	brain:	n/a
8	chr6:160680034-160680084	GM12892	blood:	n/a
9	chr6:160680034-160680084	Caco-2	colon:	n/a
10	chr6:160680034-160680084	BJ	skin:	n/a
11	chr6:160680034-160680084	IMR90	lung:	fetal
12	chr6:160680034-160680084	AG04449	skin:	fetal
13	chr6:160680034-160680084	GM06990	blood:	n/a
14	chr6:160680034-160680084	HNPCEpiC	eye:	n/a
15	chr6:160680034-160680084	ovcar-3	ovarian:	n/a
16	chr6:160680034-160680084	AG09319	gingival:	n/a
17	chr6:160680034-160680084	SK-N-SH_RA	brain:	n/a
18	chr6:160680034-160680084	HepG2	liver:	n/a
19	chr6:160680034-160680084	GM12891	blood:	n/a
20	chr6:160680034-160680084	NHDF-neo	bronchial:	n/a
21	chr6:160680034-160680084	HAEpiC	amniotic membrane:	n/a
22	chr6:160680034-160680084	K562	blood:	n/a
23	chr6:160680034-160680084	LNCaP	prostate:	n/a
24	chr6:160680034-160680084	HUVEC	blood vessel:	n/a
25	chr6:160680034-160680084	NT2-D1	testis:	n/a
26	chr6:160680034-160680084	HCT-116	colon:	n/a
27	chr6:160680034-160680084	HRE	kidney:	n/a
28	chr6:160680034-160680084	CMK	blood:	n/a
29	chr6:160680034-160680084	HIPEpiC	eye:	n/a
30	chr6:160680034-160680084	HCF	heart:	n/a
31	chr6:160680034-160680084	A549	lung:	n/a
32	chr6:160680034-160680084	AG10803	skin:	n/a
33	chr6:160680034-160680084	RPTEC	kidney:	n/a
34	chr6:160680034-160680084	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:160680034-160680084	H1-hESC	embryonic stem cell:	embryo
36	chr6:160680034-160680084	ECC-1	luminal epithelium:	n/a
37	chr6:160680034-160680084	HL-60	blood:	n/a
38	chr6:160680034-160680084	HCM	heart:	n/a
39	chr6:160680034-160680084	HEEpiC	esophagus:	n/a
40	chr6:160680034-160680084	AG04450	lung:	fetal
41	chr6:160680034-160680084	Hela-S3	cervix:	n/a
42	chr6:160680034-160680084	MCF10A-Er-Src	breast:	n/a
43	chr6:160680034-160680084	HEK293	kidney:	embryo
44	chr6:160680034-160680084	U87	brain:	n/a
45	chr6:160680034-160680084	SKMC	muscle:	n/a
46	chr6:160680034-160680084	NHBE	bronchial:	n/a
47	chr6:160680034-160680084	HRPEpiC	eye:	n/a
48	chr6:160680034-160680084	Hepatocyte	liver:	n/a
49	chr6:160680034-160680084	AG09309	skin:	n/a
50	chr6:160680034-160680084	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
SLC22A2	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56908905	1.00[EUR][1000 genomes]
rs60249401	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv886809	chr6:160670494-160979275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160675000-160680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:160676000-160680200	Weak transcription	Fetal Kidney	kidney
3	chr6:160676400-160680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:160676400-160681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:160676400-160682000	Weak transcription	Pancreas	Pancrea
6	chr6:160676400-160683200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:160676600-160683000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:160677000-160681800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:160677200-160681000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:160677400-160680200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:160677600-160680800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:160677800-160681800	Weak transcription	A549	lung
13	chr6:160678000-160680800	Weak transcription	NHEK	skin
14	chr6:160678200-160680600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:160678200-160681800	Enhancers	Colon Smooth Muscle	Colon
16	chr6:160678400-160680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:160678400-160681800	Weak transcription	HMEC	breast
18	chr6:160679000-160681600	Enhancers	Fetal Stomach	stomach
19	chr6:160679000-160682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:160679000-160683200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:160679400-160680200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:160679400-160680400	Enhancers	Placenta	Placenta
23	chr6:160679400-160680600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:160679400-160680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:160679400-160681800	Enhancers	Rectal Smooth Muscle	rectum
26	chr6:160679400-160682200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:160679600-160682600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:160679800-160680200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:160679800-160680400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:160679800-160681200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:160679800-160681200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr6:160679800-160681400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:160680000-160681000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:160680000-160681800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:160680000-160682000	Enhancers	Fetal Muscle Leg	muscle
36	chr6:160680000-160685800	Enhancers	Fetal Intestine Large	intestine

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