Variant report

Variant	rs67151693
Chromosome Location	chr7:140102934-140102935
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:3)
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	chr7:140102894-140102944	GM12878	blood:	n/a
2	chr7:140102894-140102944	PANC-1	pancreas:	n/a
3	chr7:140102894-140102944	NH-A	brain:	n/a
4	chr7:140102894-140102944	HL-60	blood:	n/a
5	chr7:140102894-140102944	HEEpiC	esophagus:	n/a
6	chr7:140102894-140102944	U87	brain:	n/a
7	chr7:140102894-140102944	Jurkat	blood:	n/a
8	chr7:140102894-140102944	BJ	skin:	n/a
9	chr7:140102894-140102944	K562	blood:	n/a
10	chr7:140102894-140102944	MCF10A-Er-Src	breast:	n/a
11	chr7:140102894-140102944	SK-N-SH	brain:	n/a
12	chr7:140102894-140102944	ProgFib	skin:	n/a
13	chr7:140102894-140102944	NT2-D1	testis:	n/a
14	chr7:140102894-140102944	SAEC	small airway:	n/a
15	chr7:140102894-140102944	GM12891	blood:	n/a
16	chr7:140102894-140102944	PFSK-1	brain:	n/a
17	chr7:140102894-140102944	HRE	kidney:	n/a
18	chr7:140102894-140102944	HUVEC	blood vessel:	n/a
19	chr7:140102894-140102944	H1-hESC	embryonic stem cell:	embryo
20	chr7:140102894-140102944	SK-N-MC	brain:	n/a
21	chr7:140102894-140102944	Caco-2	colon:	n/a
22	chr7:140102894-140102944	HIPEpiC	eye:	n/a
23	chr7:140102894-140102944	NHBE	bronchial:	n/a
24	chr7:140102894-140102944	IMR90	lung:	fetal
25	chr7:140102894-140102944	NB4	blood:	n/a
26	chr7:140102894-140102944	GM19239	blood:	n/a
27	chr7:140102894-140102944	LNCaP	prostate:	n/a
28	chr7:140102894-140102944	RPTEC	kidney:	n/a
29	chr7:140102894-140102944	HNPCEpiC	eye:	n/a
30	chr7:140102894-140102944	PrEC	prostate:	n/a
31	chr7:140102894-140102944	NHDF-neo	bronchial:	n/a
32	chr7:140102894-140102944	T-47D	breast:	n/a
33	chr7:140102894-140102944	HCPEpiC	choroid plexus:	n/a
34	chr7:140102894-140102944	HCT-116	colon:	n/a
35	chr7:140102894-140102944	SKMC	muscle:	n/a
36	chr7:140102894-140102944	HAEpiC	amniotic membrane:	n/a
37	chr7:140102894-140102944	HRPEpiC	eye:	n/a
38	chr7:140102894-140102944	SK-N-SH_RA	brain:	n/a
39	chr7:140102894-140102944	HEK293	kidney:	embryo
40	chr7:140102894-140102944	Hela-S3	cervix:	n/a
41	chr7:140102894-140102944	AoSMC	blood vessel:	n/a
42	chr7:140102894-140102944	Hepatocyte	liver:	n/a
43	chr7:140102894-140102944	HMEC	breast:	n/a
44	chr7:140102894-140102944	AG09309	skin:	n/a
45	chr7:140102894-140102944	AG04450	lung:	fetal
46	chr7:140102894-140102944	CMK	blood:	n/a
47	chr7:140102894-140102944	HRCEpiC	kidney:	n/a
48	chr7:140102894-140102944	GM12892	blood:	n/a
49	chr7:140102894-140102944	AG10803	skin:	n/a
50	chr7:140102894-140102944	BE2_C	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140102606..140105072-chr7:140105892..140108161,2	K562	blood:
2	chr7:140102372..140104106-chr7:140105892..140108015,2	K562	blood:
3	chr7:140097102..140100754-chr7:140100879..140105218,4	MCF-7	breast:

No data

Variant related genes	Relation type
RAB19	CpG island
SLC37A3	CpG island
ENSG00000146955	Chromatin interaction
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10251020	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10273430	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12703828	0.87[EUR][1000 genomes]
rs13235719	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13246775	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62490400	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9640466	0.87[EUR][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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140098000-140103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:140098400-140103400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:140098400-140103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140098400-140103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:140098400-140103600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:140098400-140103600	Weak transcription	Small Intestine	intestine
7	chr7:140098400-140103600	Weak transcription	Spleen	Spleen
8	chr7:140098600-140103200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:140098600-140103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:140098600-140103400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:140098600-140103400	Weak transcription	Thymus	Thymus
12	chr7:140098600-140103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:140098600-140103600	Weak transcription	Liver	Liver
14	chr7:140098600-140103600	Weak transcription	Placenta	Placenta
15	chr7:140098600-140103600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:140098800-140103000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:140098800-140103000	Weak transcription	Fetal Thymus	thymus
18	chr7:140098800-140103000	Weak transcription	HepG2	liver
19	chr7:140098800-140103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:140098800-140103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:140098800-140103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:140098800-140103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:140098800-140103200	Weak transcription	Fetal Intestine Small	intestine
24	chr7:140098800-140103400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:140098800-140103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:140098800-140103400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:140098800-140103400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:140098800-140103400	Weak transcription	HMEC	breast
29	chr7:140098800-140103400	Weak transcription	NHEK	skin
30	chr7:140098800-140103600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:140098800-140103600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:140098800-140103600	Weak transcription	Lung	lung
33	chr7:140099000-140103400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:140099000-140103400	Weak transcription	Fetal Kidney	kidney
35	chr7:140099000-140103600	Weak transcription	Gastric	stomach
36	chr7:140099000-140103600	Weak transcription	Pancreas	Pancrea
37	chr7:140099000-140103600	Weak transcription	Dnd41	blood
38	chr7:140100600-140103000	Enhancers	Primary B cells from cord blood	blood
39	chr7:140101000-140103000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:140101400-140103400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:140101400-140103800	Enhancers	K562	blood
42	chr7:140101400-140104600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:140101600-140103400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:140101600-140103600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:140101800-140103400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:140101800-140103400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:140102000-140103400	Enhancers	Primary T cells from cord blood	blood
48	chr7:140102000-140103400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:140102400-140103400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:140102400-140103400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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