Variant report

Variant	rs11965950
Chromosome Location	chr6:78173724-78173725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:78173562-78174257	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr6:78173703-78174257	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr6:78172404-78174410	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr6:78173588-78173726	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr6:78173680-78174374	H1-hESC	embryonic stem cell:	n/a	chr6:78173779-78173792
6	SIN3A	chr6:78171981-78174406	H1-hESC	embryonic stem cell:	n/a	chr6:78174234-78174243
7	MAX	chr6:78173694-78174323	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr6:78173555-78174405	H1-hESC	embryonic stem cell:	n/a	chr6:78173843-78173852
9	BACH1	chr6:78173678-78173878	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr6:78173569-78174146	PANC-1	pancreas:	n/a	n/a
11	CTBP2	chr6:78171789-78174500	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:78172052-78174487	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr6:78171374-78174685	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr6:78170850-78175058	HUVEC	blood vessel:	n/a	n/a
15	E2F6	chr6:78172660-78174411	H1-hESC	embryonic stem cell:	n/a	chr6:78173843-78173852
16	POLR2A	chr6:78171260-78177131	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr6:78171285-78174701	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:78172021-78174538	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr6:78173665-78174197	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:78173682-78174500	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:78173720-78173770	HAEpiC	amniotic membrane:	n/a
2	chr6:78173720-78173770	NHDF-neo	bronchial:	n/a
3	chr6:78173720-78173770	HRCEpiC	kidney:	n/a
4	chr6:78173720-78173770	K562	blood:	n/a
5	chr6:78173720-78173770	HCM	heart:	n/a
6	chr6:78173720-78173770	SAEC	small airway:	n/a
7	chr6:78173720-78173770	ProgFib	skin:	n/a
8	chr6:78173720-78173770	PrEC	prostate:	n/a
9	chr6:78173720-78173770	CMK	blood:	n/a
10	chr6:78173720-78173770	AoSMC	blood vessel:	n/a
11	chr6:78173720-78173770	SK-N-SH	brain:	n/a
12	chr6:78173720-78173770	HNPCEpiC	eye:	n/a
13	chr6:78173720-78173770	MCF10A-Er-Src	breast:	n/a
14	chr6:78173720-78173770	Hela-S3	cervix:	n/a
15	chr6:78173720-78173770	GM06990	blood:	n/a
16	chr6:78173720-78173770	HL-60	blood:	n/a
17	chr6:78173720-78173770	SKMC	muscle:	n/a
18	chr6:78173720-78173770	ECC-1	luminal epithelium:	n/a
19	chr6:78173720-78173770	NH-A	brain:	n/a
20	chr6:78173720-78173770	AG04450	lung:	fetal
21	chr6:78173720-78173770	T-47D	breast:	n/a
22	chr6:78173720-78173770	A549	lung:	n/a
23	chr6:78173720-78173770	Hepatocyte	liver:	n/a
24	chr6:78173720-78173770	HCT-116	colon:	n/a
25	chr6:78173720-78173770	HEK293	kidney:	embryo
26	chr6:78173720-78173770	ovcar-3	ovarian:	n/a
27	chr6:78173720-78173770	NHBE	bronchial:	n/a
28	chr6:78173720-78173770	GM12892	blood:	n/a
29	chr6:78173720-78173770	PFSK-1	brain:	n/a
30	chr6:78173720-78173770	U87	brain:	n/a
31	chr6:78173720-78173770	SK-N-MC	brain:	n/a
32	chr6:78173720-78173770	AG09319	gingival:	n/a
33	chr6:78173720-78173770	HRE	kidney:	n/a
34	chr6:78173720-78173770	IMR90	lung:	fetal
35	chr6:78173720-78173770	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:78173720-78173770	HEEpiC	esophagus:	n/a
37	chr6:78173720-78173770	HRPEpiC	eye:	n/a
38	chr6:78173720-78173770	BJ	skin:	n/a
39	chr6:78173720-78173770	Jurkat	blood:	n/a
40	chr6:78173720-78173770	GM12878	blood:	n/a
41	chr6:78173720-78173770	GM12891	blood:	n/a
42	chr6:78173720-78173770	MCF-7	breast:	n/a
43	chr6:78173720-78173770	HepG2	liver:	n/a
44	chr6:78173720-78173770	GM19239	blood:	n/a
45	chr6:78173720-78173770	BE2_C	brain:	n/a
46	chr6:78173720-78173770	AG10803	skin:	n/a
47	chr6:78173720-78173770	SK-N-SH_RA	brain:	n/a
48	chr6:78173720-78173770	PANC-1	pancreas:	n/a
49	chr6:78173720-78173770	RPTEC	kidney:	n/a
50	chr6:78173720-78173770	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
HTR1B	TF binding region
HTR1B	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16888969	1.00[AMR][1000 genomes]
rs6926923	1.00[AMR][1000 genomes]
rs73469291	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471207	1.00[AMR][1000 genomes]
rs73471212	1.00[AMR][1000 genomes]
rs7752615	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758062	chr6:78100020-78283042	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759445	chr6:78100020-78283042	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78169400-78174600	Active TSS	Aorta	Aorta
2	chr6:78171400-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:78171400-78174600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:78171400-78174600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr6:78171600-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:78171600-78174600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:78171800-78173800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr6:78171800-78174200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:78171800-78174400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:78171800-78174400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr6:78171800-78174800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:78171800-78174800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:78172000-78174200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:78172000-78174200	Active TSS	HUVEC	blood vessel
15	chr6:78172000-78174400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:78172200-78173800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:78172200-78173800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr6:78172200-78174000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:78172200-78174200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:78172200-78174200	Bivalent Enhancer	Liver	Liver
21	chr6:78172200-78174200	Bivalent/Poised TSS	Left Ventricle	heart
22	chr6:78172200-78174200	Flanking Active TSS	Pancreas	Pancrea
23	chr6:78172200-78174200	Active TSS	NH-A	brain
24	chr6:78172200-78174400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:78172200-78174400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:78172200-78174400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:78172200-78174400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:78172200-78174400	Bivalent/Poised TSS	Osteobl	bone
29	chr6:78172200-78174600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr6:78172400-78173800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr6:78172400-78174200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:78172400-78174200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr6:78172400-78174400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:78172400-78174400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
35	chr6:78172400-78174400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr6:78172400-78174400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr6:78172400-78174400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr6:78172400-78174400	Bivalent Enhancer	Spleen	Spleen
39	chr6:78172400-78174600	Bivalent/Poised TSS	Placenta	Placenta
40	chr6:78172400-78174600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr6:78172600-78174000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:78172600-78174400	Flanking Active TSS	HMEC	breast
43	chr6:78172600-78174400	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr6:78172600-78174600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr6:78172800-78173800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr6:78172800-78173800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:78172800-78174400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr6:78173000-78174200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr6:78173000-78174200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:78173000-78174200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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