Variant report

Variant	rs114949263
Chromosome Location	chr7:150498245-150498246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:150498235-150499076	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150498205-150498255	HNPCEpiC	eye:	n/a
2	chr7:150498205-150498255	SAEC	small airway:	n/a
3	chr7:150498205-150498255	HIPEpiC	eye:	n/a
4	chr7:150498205-150498255	NHBE	bronchial:	n/a
5	chr7:150498205-150498255	SKMC	muscle:	n/a
6	chr7:150498205-150498255	Jurkat	blood:	n/a
7	chr7:150498205-150498255	NH-A	brain:	n/a
8	chr7:150498205-150498255	ovcar-3	ovarian:	n/a
9	chr7:150498205-150498255	HRCEpiC	kidney:	n/a
10	chr7:150498205-150498255	HMEC	breast:	n/a
11	chr7:150498205-150498255	NT2-D1	testis:	n/a
12	chr7:150498205-150498255	MCF10A-Er-Src	breast:	n/a
13	chr7:150498205-150498255	AG09309	skin:	n/a
14	chr7:150498205-150498255	HL-60	blood:	n/a
15	chr7:150498205-150498255	HCT-116	colon:	n/a
16	chr7:150498205-150498255	HEEpiC	esophagus:	n/a
17	chr7:150498205-150498255	HRE	kidney:	n/a
18	chr7:150498205-150498255	ECC-1	luminal epithelium:	n/a
19	chr7:150498205-150498255	GM12878	blood:	n/a
20	chr7:150498205-150498255	AG10803	skin:	n/a
21	chr7:150498205-150498255	H1-hESC	embryonic stem cell:	embryo
22	chr7:150498205-150498255	HEK293	kidney:	embryo
23	chr7:150498205-150498255	BJ	skin:	n/a
24	chr7:150498205-150498255	CMK	blood:	n/a
25	chr7:150498205-150498255	PFSK-1	brain:	n/a
26	chr7:150498205-150498255	T-47D	breast:	n/a
27	chr7:150498205-150498255	BE2_C	brain:	n/a
28	chr7:150498205-150498255	HCM	heart:	n/a
29	chr7:150498205-150498255	HepG2	liver:	n/a
30	chr7:150498205-150498255	SK-N-MC	brain:	n/a
31	chr7:150498205-150498255	IMR90	lung:	fetal
32	chr7:150498205-150498255	HRPEpiC	eye:	n/a
33	chr7:150498205-150498255	HCPEpiC	choroid plexus:	n/a
34	chr7:150498205-150498255	NB4	blood:	n/a
35	chr7:150498205-150498255	GM19239	blood:	n/a
36	chr7:150498205-150498255	GM06990	blood:	n/a
37	chr7:150498205-150498255	U87	brain:	n/a
38	chr7:150498205-150498255	PrEC	prostate:	n/a
39	chr7:150498205-150498255	HAEpiC	amniotic membrane:	n/a
40	chr7:150498205-150498255	GM12891	blood:	n/a
41	chr7:150498205-150498255	SK-N-SH_RA	brain:	n/a
42	chr7:150498205-150498255	Hela-S3	cervix:	n/a
43	chr7:150498205-150498255	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:150498205-150498255	SK-N-SH	brain:	n/a
45	chr7:150498205-150498255	MCF-7	breast:	n/a
46	chr7:150498205-150498255	AG09319	gingival:	n/a
47	chr7:150498205-150498255	HCF	heart:	n/a
48	chr7:150498205-150498255	NHDF-neo	bronchial:	n/a
49	chr7:150498205-150498255	A549	lung:	n/a
50	chr7:150498205-150498255	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150490163..150495069-chr7:150496481..150500897,6	K562	blood:

No data

Variant related genes	Relation type
TMEM176A	TF binding region
TMEM176B	TF binding region
TMEM176A	CpG island
TMEM176B	CpG island
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3422811	chr7:150496544-150499392	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150494600-150498800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:150495000-150499200	Active TSS	Liver	Liver
3	chr7:150495800-150499400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:150496200-150498800	Active TSS	Brain Anterior Caudate	brain
5	chr7:150496200-150499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:150496200-150499600	Active TSS	Rectal Smooth Muscle	rectum
7	chr7:150496400-150498800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
8	chr7:150496400-150498800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr7:150496400-150498800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:150496400-150499000	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr7:150496600-150498400	Active TSS	Fetal Intestine Small	intestine
12	chr7:150496600-150498400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:150496600-150498600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:150496600-150498600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:150496600-150498600	Active TSS	Right Atrium	heart
16	chr7:150496600-150498600	Bivalent/Poised TSS	Small Intestine	intestine
17	chr7:150496600-150498800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
20	chr7:150496600-150498800	Active TSS	Gastric	stomach
21	chr7:150496600-150499000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr7:150496800-150498400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr7:150496800-150498400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:150496800-150498400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr7:150496800-150498600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:150496800-150498800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:150496800-150499000	Active TSS	Ovary	ovary
28	chr7:150497000-150498400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:150497000-150498600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr7:150497000-150498600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:150497000-150498600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:150497000-150498600	Bivalent Enhancer	Fetal Brain Male	brain
33	chr7:150497000-150498600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr7:150497000-150498800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:150497000-150498800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:150497000-150498800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:150497200-150498600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr7:150497400-150498400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr7:150497400-150498600	Active TSS	Pancreas	Pancrea
40	chr7:150497400-150498800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr7:150497400-150499000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
42	chr7:150497400-150499000	Active TSS	Spleen	Spleen
43	chr7:150497600-150498400	Active TSS	Psoas Muscle	Psoas
44	chr7:150497600-150498600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:150497600-150498600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr7:150497600-150498600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr7:150497800-150498600	Flanking Active TSS	Right Ventricle	heart
48	chr7:150498000-150498400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr7:150498000-150498400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr7:150498000-150498400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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