Variant report

Variant	rs676773
Chromosome Location	chr4:107242551-107242552
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:1)
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	chr4:107242537-107242587	CMK	blood:	n/a
2	chr4:107242537-107242587	NB4	blood:	n/a
3	chr4:107242537-107242587	GM12892	blood:	n/a
4	chr4:107242537-107242587	AG09309	skin:	n/a
5	chr4:107242537-107242587	AG09319	gingival:	n/a
6	chr4:107242537-107242587	HAEpiC	amniotic membrane:	n/a
7	chr4:107242537-107242587	HL-60	blood:	n/a
8	chr4:107242537-107242587	SKMC	muscle:	n/a
9	chr4:107242537-107242587	PFSK-1	brain:	n/a
10	chr4:107242537-107242587	BE2_C	brain:	n/a
11	chr4:107242537-107242587	HMEC	breast:	n/a
12	chr4:107242537-107242587	HIPEpiC	eye:	n/a
13	chr4:107242537-107242587	SK-N-MC	brain:	n/a
14	chr4:107242537-107242587	HCM	heart:	n/a
15	chr4:107242537-107242587	Jurkat	blood:	n/a
16	chr4:107242537-107242587	ProgFib	skin:	n/a
17	chr4:107242537-107242587	Hela-S3	cervix:	n/a
18	chr4:107242537-107242587	GM06990	blood:	n/a
19	chr4:107242537-107242587	U87	brain:	n/a
20	chr4:107242537-107242587	PrEC	prostate:	n/a
21	chr4:107242537-107242587	HEEpiC	esophagus:	n/a
22	chr4:107242537-107242587	ECC-1	luminal epithelium:	n/a
23	chr4:107242537-107242587	AG04449	skin:	fetal
24	chr4:107242537-107242587	HepG2	liver:	n/a
25	chr4:107242537-107242587	BJ	skin:	n/a
26	chr4:107242537-107242587	HCPEpiC	choroid plexus:	n/a
27	chr4:107242537-107242587	MCF10A-Er-Src	breast:	n/a
28	chr4:107242537-107242587	HRCEpiC	kidney:	n/a
29	chr4:107242537-107242587	LNCaP	prostate:	n/a
30	chr4:107242537-107242587	PANC-1	pancreas:	n/a
31	chr4:107242537-107242587	HRE	kidney:	n/a
32	chr4:107242537-107242587	SK-N-SH_RA	brain:	n/a
33	chr4:107242537-107242587	Caco-2	colon:	n/a
34	chr4:107242537-107242587	HCF	heart:	n/a
35	chr4:107242537-107242587	HEK293	kidney:	embryo
36	chr4:107242537-107242587	H1-hESC	embryonic stem cell:	embryo
37	chr4:107242537-107242587	T-47D	breast:	n/a
38	chr4:107242537-107242587	HRPEpiC	eye:	n/a
39	chr4:107242537-107242587	Hepatocyte	liver:	n/a
40	chr4:107242537-107242587	MCF-7	breast:	n/a
41	chr4:107242537-107242587	NHDF-neo	bronchial:	n/a
42	chr4:107242537-107242587	SK-N-SH	brain:	n/a
43	chr4:107242537-107242587	NT2-D1	testis:	n/a
44	chr4:107242537-107242587	NHBE	bronchial:	n/a
45	chr4:107242537-107242587	GM19239	blood:	n/a
46	chr4:107242537-107242587	SAEC	small airway:	n/a
47	chr4:107242537-107242587	HUVEC	blood vessel:	n/a
48	chr4:107242537-107242587	IMR90	lung:	fetal
49	chr4:107242537-107242587	RPTEC	kidney:	n/a
50	chr4:107242537-107242587	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107237524..107239037-chr4:107241153..107242940,2	MCF-7	breast:

No data

Variant related genes	Relation type
TBCK	CpG island
ENSG00000145348	Chromatin interaction
ENSG00000164022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12125491	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031481	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477567	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2584951	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2584952	0.83[ASN][1000 genomes]
rs2920157	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985722	0.81[ASN][1000 genomes]
rs2985726	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3011807	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs471555	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483181	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs498505	0.83[AMR][1000 genomes]
rs499605	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs524016	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527874	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527976	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs540969	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs554708	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573916	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575038	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs575115	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs576743	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs586006	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs588140	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs602246	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs604716	0.81[ASN][1000 genomes]
rs612971	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs614763	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs632028	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs645347	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646281	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs647596	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs663740	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675809	0.83[ASN][1000 genomes]
rs677178	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs689397	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72704299	0.83[ASN][1000 genomes]
rs9437999	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107238600-107245800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:107238600-107258000	Weak transcription	Gastric	stomach
3	chr4:107238600-107258400	Weak transcription	Spleen	Spleen
4	chr4:107238600-107258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:107238600-107259600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:107238600-107259600	Weak transcription	Pancreas	Pancrea
7	chr4:107238800-107247000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:107238800-107247000	Weak transcription	Fetal Thymus	thymus
9	chr4:107238800-107248000	Weak transcription	Ovary	ovary
10	chr4:107238800-107259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:107239000-107243400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:107239000-107245600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:107239000-107247000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:107239000-107248200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:107239000-107252400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:107239000-107252800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:107239000-107259200	Weak transcription	Fetal Brain Male	brain
18	chr4:107239200-107243200	Weak transcription	Small Intestine	intestine
19	chr4:107239200-107245800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:107239200-107246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:107239200-107247000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:107239200-107247000	Weak transcription	Fetal Brain Female	brain
23	chr4:107239200-107247200	Weak transcription	Fetal Kidney	kidney
24	chr4:107239200-107247600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:107239200-107248000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:107239200-107248800	Weak transcription	Fetal Heart	heart
27	chr4:107239200-107258400	Weak transcription	Aorta	Aorta
28	chr4:107239200-107259400	Weak transcription	Psoas Muscle	Psoas
29	chr4:107239400-107245800	Weak transcription	A549	lung
30	chr4:107239400-107246200	Weak transcription	Fetal Lung	lung
31	chr4:107239400-107246400	Weak transcription	Primary B cells from cord blood	blood
32	chr4:107239400-107246400	Weak transcription	Placenta	Placenta
33	chr4:107239400-107247000	Weak transcription	Adipose Nuclei	Adipose
34	chr4:107239400-107247000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:107239400-107247000	Weak transcription	Colonic Mucosa	Colon
36	chr4:107239400-107247000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:107239400-107247000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:107239400-107247400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:107239400-107248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:107239400-107248200	Weak transcription	Brain Angular Gyrus	brain
41	chr4:107239400-107248200	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:107239400-107248600	Weak transcription	HSMMtube	muscle
43	chr4:107239400-107255200	Weak transcription	Stomach Mucosa	stomach
44	chr4:107239600-107247600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:107239600-107248000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:107239600-107249200	Weak transcription	NHLF	lung
47	chr4:107239800-107246200	Weak transcription	NH-A	brain
48	chr4:107239800-107247400	Weak transcription	HMEC	breast
49	chr4:107239800-107247600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:107240000-107243600	Weak transcription	Muscle Satellite Cultured Cells	--

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