Variant report

Variant	rs73476760
Chromosome Location	chr7:150815346-150815347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150815229-150815795	K562	blood:	n/a	n/a
2	POLR2A	chr7:150815337-150815418	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:150815228-150815428	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150815320-150815370	BJ	skin:	n/a
2	chr7:150815320-150815370	Hela-S3	cervix:	n/a
3	chr7:150815320-150815370	HCPEpiC	choroid plexus:	n/a
4	chr7:150815320-150815370	NB4	blood:	n/a
5	chr7:150815320-150815370	K562	blood:	n/a
6	chr7:150815320-150815370	SAEC	small airway:	n/a
7	chr7:150815320-150815370	AoSMC	blood vessel:	n/a
8	chr7:150815320-150815370	SK-N-SH	brain:	n/a
9	chr7:150815320-150815370	SKMC	muscle:	n/a
10	chr7:150815320-150815370	GM12878	blood:	n/a
11	chr7:150815320-150815370	HL-60	blood:	n/a
12	chr7:150815320-150815370	NT2-D1	testis:	n/a
13	chr7:150815320-150815370	ProgFib	skin:	n/a
14	chr7:150815320-150815370	AG04449	skin:	fetal
15	chr7:150815320-150815370	HPAEpiC	pulmonary alveolar:	n/a
16	chr7:150815320-150815370	HEEpiC	esophagus:	n/a
17	chr7:150815320-150815370	IMR90	lung:	fetal
18	chr7:150815320-150815370	PFSK-1	brain:	n/a
19	chr7:150815320-150815370	AG10803	skin:	n/a
20	chr7:150815320-150815370	HRCEpiC	kidney:	n/a
21	chr7:150815320-150815370	ovcar-3	ovarian:	n/a
22	chr7:150815320-150815370	HCF	heart:	n/a
23	chr7:150815320-150815370	H1-hESC	embryonic stem cell:	embryo
24	chr7:150815320-150815370	AG09319	gingival:	n/a
25	chr7:150815320-150815370	NH-A	brain:	n/a
26	chr7:150815320-150815370	CMK	blood:	n/a
27	chr7:150815320-150815370	AG04450	lung:	fetal
28	chr7:150815320-150815370	NHBE	bronchial:	n/a
29	chr7:150815320-150815370	AG09309	skin:	n/a
30	chr7:150815320-150815370	A549	lung:	n/a
31	chr7:150815320-150815370	U87	brain:	n/a
32	chr7:150815320-150815370	RPTEC	kidney:	n/a
33	chr7:150815320-150815370	MCF10A-Er-Src	breast:	n/a
34	chr7:150815320-150815370	SK-N-SH_RA	brain:	n/a
35	chr7:150815320-150815370	MCF-7	breast:	n/a
36	chr7:150815320-150815370	SK-N-MC	brain:	n/a
37	chr7:150815320-150815370	GM12892	blood:	n/a
38	chr7:150815320-150815370	HUVEC	blood vessel:	n/a
39	chr7:150815320-150815370	HNPCEpiC	eye:	n/a
40	chr7:150815320-150815370	PANC-1	pancreas:	n/a
41	chr7:150815320-150815370	Jurkat	blood:	n/a
42	chr7:150815320-150815370	PrEC	prostate:	n/a
43	chr7:150815320-150815370	HCT-116	colon:	n/a
44	chr7:150815320-150815370	HEK293	kidney:	embryo
45	chr7:150815320-150815370	HMEC	breast:	n/a
46	chr7:150815320-150815370	HAEpiC	amniotic membrane:	n/a
47	chr7:150815320-150815370	Hepatocyte	liver:	n/a
48	chr7:150815320-150815370	HepG2	liver:	n/a
49	chr7:150815320-150815370	GM19239	blood:	n/a
50	chr7:150815320-150815370	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:8094111..8096395-chr7:150814186..150816873,2	MCF-7	breast:
2	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
3	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:

No data

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000107485	Chromatin interaction
ENSG00000243350	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000197308	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3730002	1.00[AMR][1000 genomes]
rs3730003	1.00[AMR][1000 genomes]
rs3918178	1.00[AMR][1000 genomes]
rs3918180	1.00[AMR][1000 genomes]
rs3918187	1.00[AMR][1000 genomes]
rs3918191	1.00[AMR][1000 genomes]
rs3918192	1.00[AMR][1000 genomes]
rs41314384	1.00[AMR][1000 genomes]
rs41314390	1.00[AMR][1000 genomes]
rs41314396	1.00[AMR][1000 genomes]
rs6979425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv3438638	chr7:150814869-150817367	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
2	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
3	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
4	chr7:150811600-150815400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
6	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
7	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:150812800-150815400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150812800-150815600	Weak transcription	Aorta	Aorta
10	chr7:150812800-150815800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:150812800-150816200	Flanking Active TSS	Dnd41	blood
12	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
13	chr7:150813000-150818800	Strong transcription	HepG2	liver
14	chr7:150813000-150821400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:150813000-150822400	Strong transcription	NHLF	lung
16	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:150813200-150815400	Weak transcription	HSMMtube	muscle
19	chr7:150813200-150815600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150813200-150815600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:150813200-150815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:150813200-150816200	Weak transcription	HUVEC	blood vessel
23	chr7:150813200-150821000	Weak transcription	Fetal Brain Male	brain
24	chr7:150813200-150822200	Weak transcription	Right Atrium	heart
25	chr7:150813400-150815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:150813400-150816000	Genic enhancers	Spleen	Spleen
27	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:150813600-150815600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:150813600-150816000	Weak transcription	HSMM	muscle
30	chr7:150813600-150819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:150813600-150821200	Strong transcription	Fetal Stomach	stomach
32	chr7:150813600-150821400	Strong transcription	Right Ventricle	heart
33	chr7:150813600-150822200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:150813600-150822400	Strong transcription	Fetal Brain Female	brain
35	chr7:150813600-150822400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:150813600-150822600	Strong transcription	Liver	Liver
37	chr7:150813800-150815400	Weak transcription	Fetal Lung	lung
38	chr7:150813800-150815600	Weak transcription	Brain Angular Gyrus	brain
39	chr7:150813800-150819000	Weak transcription	Fetal Heart	heart
40	chr7:150813800-150819400	Strong transcription	Fetal Intestine Large	intestine
41	chr7:150813800-150820800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:150813800-150821000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:150813800-150821200	Strong transcription	Brain Anterior Caudate	brain
44	chr7:150813800-150821200	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:150814000-150815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150814000-150815600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:150814000-150817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:150814000-150819000	Weak transcription	A549	lung
49	chr7:150814000-150821000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:150814000-150821200	Strong transcription	Fetal Muscle Trunk	muscle

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