Variant report

Variant	rs1213365
Chromosome Location	chr6:78176555-78176556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:78176420-78176570	GM12869	blood:	n/a	n/a
2	CTCF	chr6:78176460-78176610	GM12868	blood:	n/a	n/a
3	MAX	chr6:78175846-78176791	GM12878	blood:	n/a	n/a
4	CTCF	chr6:78176420-78176570	GM12873	blood:	n/a	n/a
5	CTCF	chr6:78176500-78176650	AG09309	skin:	n/a	n/a
6	CTCF	chr6:78176460-78176610	HBMEC	blood vessel:	n/a	n/a
7	ZNF384	chr6:78175881-78176595	GM12878	blood:	n/a	n/a
8	CTCF	chr6:78176460-78176750	GM12874	blood:	n/a	n/a
9	CTCF	chr6:78176500-78176650	BJ	skin:	n/a	n/a
10	PML	chr6:78176098-78176607	GM12878	blood:	n/a	n/a
11	CTCF	chr6:78176460-78176610	NHDF-neo	bronchial:	n/a	n/a
12	ZNF143	chr6:78175676-78176730	GM12878	blood:	n/a	chr6:78176069-78176088
13	CHD1	chr6:78176491-78176615	GM12878	blood:	n/a	n/a
14	CTCF	chr6:78176440-78176590	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr6:78176520-78176670	GM12801	blood:	n/a	n/a
16	CTCF	chr6:78176440-78176590	GM12865	blood:	n/a	n/a
17	RAD21	chr6:78175664-78176846	GM12878	blood:	n/a	chr6:78175859-78175878
18	CTCF	chr6:78176480-78176630	HA-sp	spinal cord:	n/a	n/a
19	ELF1	chr6:78176089-78176697	GM12878	blood:	n/a	chr6:78176326-78176337
20	WRNIP1	chr6:78175678-78176705	GM12878	blood:	n/a	n/a
21	CTCF	chr6:78176440-78176590	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr6:78176450-78176582	MCF-7	breast:	n/a	n/a
23	SPI1	chr6:78175814-78176829	GM12878	blood:	n/a	chr6:78176761-78176770 chr6:78176326-78176339
24	CTCF	chr6:78176420-78176570	AG10803	skin:	n/a	n/a
25	CTCF	chr6:78176420-78176570	AG04449	skin:	n/a	n/a
26	CTCF	chr6:78176420-78176570	SAEC	small airway:	n/a	n/a
27	CTCF	chr6:78176460-78176610	GM06990	blood:	n/a	n/a
28	POLR2A	chr6:78175129-78177168	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr6:78176480-78176630	GM12871	blood:	n/a	n/a
30	CTCF	chr6:78176440-78176590	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:78175633-78176631	IMR90	lung:	n/a	chr6:78175860-78175881 chr6:78175861-78175874
32	BHLHE40	chr6:78175767-78176771	GM12878	blood:	n/a	n/a
33	CHD2	chr6:78176191-78176975	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr6:78176322-78176704	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:78176460-78176610	HRPEpiC	eye:	n/a	n/a
36	RAD21	chr6:78176347-78176725	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr6:78175712-78176601	GM12878	blood:	n/a	n/a
38	CTCF	chr6:78176520-78176670	GM12868	blood:	n/a	n/a
39	CTCF	chr6:78176440-78176590	AG10803	skin:	n/a	n/a
40	ELF1	chr6:78175776-78176599	SK-N-SH	brain:	n/a	chr6:78176326-78176337
41	POLR2A	chr6:78174845-78177075	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr6:78176459-78176574	GM13977	blood:	n/a	n/a
43	CTCF	chr6:78176480-78176630	BJ	skin:	n/a	n/a
44	RAD21	chr6:78175663-78176596	IMR90	lung:	n/a	chr6:78175859-78175878
45	CTCF	chr6:78176480-78176630	GM12872	blood:	n/a	n/a
46	CTCF	chr6:78176460-78176610	GM12864	blood:	n/a	n/a
47	ZNF143	chr6:78175583-78176986	H1-hESC	embryonic stem cell:	n/a	chr6:78176069-78176088
48	ELF1	chr6:78176059-78176663	SK-N-SH	brain:	n/a	chr6:78176326-78176337
49	CTCF	chr6:78176460-78176610	GM12866	blood:	n/a	n/a
50	CTCF	chr6:78176460-78176610	HPF	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:78176512-78176562	GM12891	blood:	n/a
2	chr6:78176512-78176562	SKMC	muscle:	n/a
3	chr6:78176512-78176562	Hepatocyte	liver:	n/a
4	chr6:78176512-78176562	GM12878	blood:	n/a
5	chr6:78176512-78176562	LNCaP	prostate:	n/a
6	chr6:78176512-78176562	SK-N-SH_RA	brain:	n/a
7	chr6:78176512-78176562	PANC-1	pancreas:	n/a
8	chr6:78176512-78176562	ovcar-3	ovarian:	n/a
9	chr6:78176512-78176562	AG09319	gingival:	n/a
10	chr6:78176512-78176562	BJ	skin:	n/a
11	chr6:78176512-78176562	HEEpiC	esophagus:	n/a
12	chr6:78176512-78176562	HL-60	blood:	n/a
13	chr6:78176512-78176562	CMK	blood:	n/a
14	chr6:78176512-78176562	AG04450	lung:	fetal
15	chr6:78176512-78176562	HEK293	kidney:	embryo
16	chr6:78176512-78176562	AG09309	skin:	n/a
17	chr6:78176512-78176562	HepG2	liver:	n/a
18	chr6:78176512-78176562	RPTEC	kidney:	n/a
19	chr6:78176512-78176562	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:78176512-78176562	K562	blood:	n/a
21	chr6:78176512-78176562	SK-N-SH	brain:	n/a
22	chr6:78176512-78176562	MCF10A-Er-Src	breast:	n/a
23	chr6:78176512-78176562	HRPEpiC	eye:	n/a
24	chr6:78176512-78176562	GM19239	blood:	n/a
25	chr6:78176512-78176562	Jurkat	blood:	n/a
26	chr6:78176512-78176562	HMEC	breast:	n/a
27	chr6:78176512-78176562	ProgFib	skin:	n/a
28	chr6:78176512-78176562	MCF-7	breast:	n/a
29	chr6:78176512-78176562	HCM	heart:	n/a
30	chr6:78176512-78176562	SAEC	small airway:	n/a
31	chr6:78176512-78176562	Hela-S3	cervix:	n/a
32	chr6:78176512-78176562	HIPEpiC	eye:	n/a
33	chr6:78176512-78176562	U87	brain:	n/a
34	chr6:78176512-78176562	HCT-116	colon:	n/a
35	chr6:78176512-78176562	PrEC	prostate:	n/a
36	chr6:78176512-78176562	NH-A	brain:	n/a
37	chr6:78176512-78176562	NT2-D1	testis:	n/a
38	chr6:78176512-78176562	HCF	heart:	n/a
39	chr6:78176512-78176562	AoSMC	blood vessel:	n/a
40	chr6:78176512-78176562	HRE	kidney:	n/a
41	chr6:78176512-78176562	ECC-1	luminal epithelium:	n/a
42	chr6:78176512-78176562	GM12892	blood:	n/a
43	chr6:78176512-78176562	AG10803	skin:	n/a
44	chr6:78176512-78176562	Caco-2	colon:	n/a
45	chr6:78176512-78176562	HUVEC	blood vessel:	n/a
46	chr6:78176512-78176562	SK-N-MC	brain:	n/a
47	chr6:78176512-78176562	HCPEpiC	choroid plexus:	n/a
48	chr6:78176512-78176562	BE2_C	brain:	n/a
49	chr6:78176512-78176562	NHDF-neo	bronchial:	n/a
50	chr6:78176512-78176562	H1-hESC	embryonic stem cell:	embryo

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1213370	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78174200-78176800	Flanking Active TSS	HUVEC	blood vessel
2	chr6:78175400-78176600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:78175400-78177000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:78175400-78177200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:78175400-78177200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:78175600-78176600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
7	chr6:78175600-78176600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
8	chr6:78175600-78176800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:78175600-78176800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:78175600-78176800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr6:78175600-78176800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
12	chr6:78175600-78176800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:78175600-78176800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:78175600-78176800	Active TSS	Aorta	Aorta
15	chr6:78175600-78176800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr6:78175600-78176800	Active TSS	Fetal Heart	heart
17	chr6:78175600-78176800	Bivalent/Poised TSS	Fetal Kidney	kidney
18	chr6:78175600-78176800	Active TSS	Ovary	ovary
19	chr6:78175600-78176800	Active TSS	GM12878-XiMat	blood
20	chr6:78175600-78177000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:78175600-78177000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:78175600-78177000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:78175600-78177000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr6:78175600-78177000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr6:78175600-78177000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:78175600-78177000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr6:78175600-78177000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:78175600-78177000	Active TSS	Right Ventricle	heart
29	chr6:78175600-78177200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:78175800-78176600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:78175800-78176600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:78175800-78176600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
33	chr6:78175800-78176600	Active TSS	Gastric	stomach
34	chr6:78175800-78176600	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:78175800-78176600	Active TSS	Right Atrium	heart
36	chr6:78175800-78176600	Active TSS	Spleen	Spleen
37	chr6:78175800-78176800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr6:78175800-78176800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:78175800-78176800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:78175800-78176800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:78175800-78176800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:78175800-78176800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:78175800-78176800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:78175800-78176800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:78175800-78176800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr6:78175800-78176800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:78175800-78176800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr6:78175800-78176800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:78175800-78176800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:78175800-78176800	Flanking Active TSS	Liver	Liver

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