Variant report

Variant	rs139374611
Chromosome Location	chr17:38218618-38218619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:38218520-38218670	NHLF	lung:	n/a	n/a
2	CTCF	chr17:38218560-38218710	HRE	kidney:	n/a	n/a
3	ZBTB7A	chr17:38218158-38219960	K562	blood:	n/a	chr17:38218854-38218868
4	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
5	MYBL2	chr17:38218452-38218924	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr17:38218572-38219980	K562	blood:	n/a	chr17:38218854-38218868
7	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
8	MAX	chr17:38218501-38218807	K562	blood:	n/a	n/a
9	RCOR1	chr17:38218598-38218862	K562	blood:	n/a	n/a
10	RCOR1	chr17:38218610-38218828	HepG2	liver:	n/a	n/a
11	SIN3A	chr17:38218544-38218867	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr17:38218594-38219939	HepG2	liver:	n/a	chr17:38219728-38219742 chr17:38219734-38219745 chr17:38219154-38219168 chr17:38219128-38219139 chr17:38219154-38219163
13	BHLHE40	chr17:38218514-38218813	K562	blood:	n/a	n/a
14	ARID3A	chr17:38218569-38218625	K562	blood:	n/a	n/a
15	CTCF	chr17:38218600-38218750	GM12864	blood:	n/a	n/a
16	MAZ	chr17:38218571-38220427	K562	blood:	n/a	n/a
17	MAZ	chr17:38218422-38220238	IMR90	lung:	n/a	n/a
18	TCF12	chr17:38218605-38222154	A549	lung:	n/a	chr17:38221945-38221952
19	POLR2A	chr17:38218567-38218660	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38218601-38218651	GM12878	blood:	n/a
2	chr17:38218601-38218651	NH-A	brain:	n/a
3	chr17:38218601-38218651	MCF-7	breast:	n/a
4	chr17:38218601-38218651	AG04449	skin:	fetal
5	chr17:38218601-38218651	GM19239	blood:	n/a
6	chr17:38218601-38218651	AoSMC	blood vessel:	n/a
7	chr17:38218601-38218651	AG10803	skin:	n/a
8	chr17:38218601-38218651	ProgFib	skin:	n/a
9	chr17:38218601-38218651	PFSK-1	brain:	n/a
10	chr17:38218601-38218651	T-47D	breast:	n/a
11	chr17:38218601-38218651	PANC-1	pancreas:	n/a
12	chr17:38218601-38218651	K562	blood:	n/a
13	chr17:38218601-38218651	HepG2	liver:	n/a
14	chr17:38218601-38218651	HCT-116	colon:	n/a
15	chr17:38218601-38218651	BE2_C	brain:	n/a
16	chr17:38218601-38218651	U87	brain:	n/a
17	chr17:38218601-38218651	IMR90	lung:	fetal
18	chr17:38218601-38218651	HCPEpiC	choroid plexus:	n/a
19	chr17:38218601-38218651	HIPEpiC	eye:	n/a
20	chr17:38218601-38218651	HUVEC	blood vessel:	n/a
21	chr17:38218601-38218651	Hela-S3	cervix:	n/a
22	chr17:38218601-38218651	HRE	kidney:	n/a
23	chr17:38218601-38218651	SK-N-MC	brain:	n/a
24	chr17:38218601-38218651	AG09319	gingival:	n/a
25	chr17:38218601-38218651	PrEC	prostate:	n/a
26	chr17:38218601-38218651	GM12892	blood:	n/a
27	chr17:38218601-38218651	SK-N-SH	brain:	n/a
28	chr17:38218601-38218651	HCM	heart:	n/a
29	chr17:38218601-38218651	ovcar-3	ovarian:	n/a
30	chr17:38218601-38218651	SKMC	muscle:	n/a
31	chr17:38218601-38218651	Jurkat	blood:	n/a
32	chr17:38218601-38218651	Hepatocyte	liver:	n/a
33	chr17:38218601-38218651	HMEC	breast:	n/a
34	chr17:38218601-38218651	SK-N-SH_RA	brain:	n/a
35	chr17:38218601-38218651	NT2-D1	testis:	n/a
36	chr17:38218601-38218651	NB4	blood:	n/a
37	chr17:38218601-38218651	MCF10A-Er-Src	breast:	n/a
38	chr17:38218601-38218651	HEEpiC	esophagus:	n/a
39	chr17:38218601-38218651	SAEC	small airway:	n/a
40	chr17:38218601-38218651	BJ	skin:	n/a
41	chr17:38218601-38218651	HRCEpiC	kidney:	n/a
42	chr17:38218601-38218651	CMK	blood:	n/a
43	chr17:38218601-38218651	HNPCEpiC	eye:	n/a
44	chr17:38218601-38218651	AG09309	skin:	n/a
45	chr17:38218601-38218651	Caco-2	colon:	n/a
46	chr17:38218601-38218651	HAEpiC	amniotic membrane:	n/a
47	chr17:38218601-38218651	AG04450	lung:	fetal
48	chr17:38218601-38218651	GM06990	blood:	n/a
49	chr17:38218601-38218651	RPTEC	kidney:	n/a
50	chr17:38218601-38218651	A549	lung:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38218382..38219065-chr17:38324572..38325105,2	MCF-7	breast:
2	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
3	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
4	chr17:38216131..38218859-chr17:38295458..38297078,2	K562	blood:
5	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
6	chr17:38181477..38183501-chr17:38217583..38219827,2	MCF-7	breast:
7	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
8	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:

No data

Variant related genes	Relation type
THRA	TF binding region
MED24	TF binding region
MED24	CpG island
THRA	CpG island
ENSG00000188895	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126368	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3393448	chr17:38218451-38220999	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38217200-38218800	Enhancers	Esophagus	oesophagus
2	chr17:38217400-38218800	Flanking Active TSS	Fetal Brain Female	brain
3	chr17:38217400-38218800	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr17:38217600-38218800	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr17:38217600-38218800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:38218000-38219000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr17:38218200-38218800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr17:38218200-38218800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:38218200-38218800	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr17:38218200-38218800	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr17:38218200-38218800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr17:38218200-38218800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr17:38218200-38218800	Flanking Active TSS	Fetal Brain Male	brain
14	chr17:38218400-38218800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38218400-38218800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:38218400-38218800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr17:38218400-38218800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr17:38218400-38218800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr17:38218400-38218800	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr17:38218400-38218800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr17:38218400-38218800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:38218400-38218800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:38218400-38218800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:38218400-38218800	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr17:38218400-38218800	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr17:38218400-38218800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr17:38218400-38218800	Flanking Active TSS	Fetal Heart	heart
28	chr17:38218400-38218800	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr17:38218400-38218800	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr17:38218400-38218800	Flanking Active TSS	Fetal Kidney	kidney
31	chr17:38218400-38218800	Flanking Active TSS	Fetal Lung	lung
32	chr17:38218400-38218800	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr17:38218400-38218800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr17:38218400-38218800	Flanking Active TSS	Stomach Mucosa	stomach
35	chr17:38218400-38218800	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr17:38218400-38219000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr17:38218400-38219000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr17:38218400-38219000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr17:38218400-38219000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr17:38218400-38219000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:38218400-38219000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr17:38218400-38219000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr17:38218400-38219000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr17:38218400-38219000	Enhancers	Lung	lung
45	chr17:38218400-38219000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr17:38218400-38219000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr17:38218400-38219000	Flanking Active TSS	Dnd41	blood
48	chr17:38218400-38219000	Flanking Active TSS	Hela-S3	cervix
49	chr17:38218400-38219000	Flanking Active TSS	K562	blood
50	chr17:38218400-38220200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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