Variant report

Variant	rs375016811
Chromosome Location	chr6:44238936-44238937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:44238535-44239067	ECC-1	luminal epithelium:	n/a	chr6:44238836-44238849
2	ZNF143	chr6:44238742-44238942	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr6:44238542-44239174	HL-60	blood:	n/a	chr6:44238836-44238849
4	REST	chr6:44238680-44239041	PANC-1	pancreas:	n/a	chr6:44238836-44238849
5	REST	chr6:44238549-44239073	PANC-1	pancreas:	n/a	chr6:44238836-44238849
6	REST	chr6:44237315-44239608	H1-neurons	neurons:	n/a	chr6:44238836-44238849 chr6:44238124-44238137 chr6:44238436-44238446 chr6:44237917-44237927
7	ZBTB7A	chr6:44238264-44239049	ECC-1	luminal epithelium:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
8	MAX	chr6:44238488-44238976	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr6:44238394-44238961	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr6:44238609-44238958	K562	blood:	n/a	chr6:44238836-44238849
11	POLR2A	chr6:44237786-44239191	H1-neurons	neurons:	n/a	n/a
12	TEAD4	chr6:44238604-44238959	A549	lung:	n/a	n/a
13	ZBTB7A	chr6:44238303-44238938	K562	blood:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
14	REST	chr6:44238577-44238983	H1-hESC	embryonic stem cell:	n/a	chr6:44238836-44238849
15	REST	chr6:44238388-44239018	SK-N-SH	brain:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
16	REST	chr6:44238609-44238954	HepG2	liver:	n/a	chr6:44238836-44238849
17	REST	chr6:44238590-44239101	HL-60	blood:	n/a	chr6:44238836-44238849
18	REST	chr6:44238591-44239096	PFSK-1	brain:	n/a	chr6:44238836-44238849
19	ZBTB7A	chr6:44238596-44239089	ECC-1	luminal epithelium:	n/a	chr6:44238629-44238636
20	ZBTB7A	chr6:44238376-44239000	K562	blood:	n/a	chr6:44238463-44238472 chr6:44238629-44238636
21	REST	chr6:44238539-44239108	MCF-7	breast:	n/a	chr6:44238836-44238849
22	REST	chr6:44238598-44239252	PFSK-1	brain:	n/a	chr6:44238836-44238849
23	REST	chr6:44238539-44238967	H1-hESC	embryonic stem cell:	n/a	chr6:44238836-44238849
24	REST	chr6:44238614-44238964	SK-N-SH	brain:	n/a	chr6:44238836-44238849
25	REST	chr6:44238592-44239032	GM12878	blood:	n/a	chr6:44238836-44238849
26	REST	chr6:44238306-44239041	ECC-1	luminal epithelium:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
27	POLR2A	chr6:44238649-44238965	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr6:44238421-44239157	PFSK-1	brain:	n/a	chr6:44238836-44238849 chr6:44238436-44238446
29	MAZ	chr6:44238298-44239163	IMR90	lung:	n/a	chr6:44238381-44238391 chr6:44239104-44239114
30	REST	chr6:44238647-44239071	A549	lung:	n/a	chr6:44238836-44238849
31	REST	chr6:44238656-44239039	MCF-7	breast:	n/a	chr6:44238836-44238849
32	REST	chr6:44238555-44239035	PANC-1	pancreas:	n/a	chr6:44238836-44238849
33	REST	chr6:44238626-44238987	U87	brain:	n/a	chr6:44238836-44238849
34	REST	chr6:44238579-44239011	K562	blood:	n/a	chr6:44238836-44238849
35	REST	chr6:44238628-44238941	U87	brain:	n/a	chr6:44238836-44238849
36	POLR2A	chr6:44237840-44239211	H1-neurons	neurons:	n/a	n/a
37	MAZ	chr6:44238602-44238945	K562	blood:	n/a	n/a
38	REST	chr6:44238591-44239023	HepG2	liver:	n/a	chr6:44238836-44238849

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44238905-44238955	BJ	skin:	n/a
2	chr6:44238905-44238955	CMK	blood:	n/a
3	chr6:44238905-44238955	AG10803	skin:	n/a
4	chr6:44238905-44238955	NH-A	brain:	n/a
5	chr6:44238905-44238955	MCF10A-Er-Src	breast:	n/a
6	chr6:44238905-44238955	HUVEC	blood vessel:	n/a
7	chr6:44238905-44238955	T-47D	breast:	n/a
8	chr6:44238905-44238955	GM19239	blood:	n/a
9	chr6:44238905-44238955	GM12878	blood:	n/a
10	chr6:44238905-44238955	NHDF-neo	bronchial:	n/a
11	chr6:44238905-44238955	Hela-S3	cervix:	n/a
12	chr6:44238905-44238955	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:44238905-44238955	IMR90	lung:	fetal
14	chr6:44238905-44238955	HRCEpiC	kidney:	n/a
15	chr6:44238905-44238955	SK-N-SH	brain:	n/a
16	chr6:44238905-44238955	ProgFib	skin:	n/a
17	chr6:44238905-44238955	AG09309	skin:	n/a
18	chr6:44238905-44238955	HNPCEpiC	eye:	n/a
19	chr6:44238905-44238955	ECC-1	luminal epithelium:	n/a
20	chr6:44238905-44238955	NHBE	bronchial:	n/a
21	chr6:44238905-44238955	SK-N-SH_RA	brain:	n/a
22	chr6:44238905-44238955	HCT-116	colon:	n/a
23	chr6:44238905-44238955	MCF-7	breast:	n/a
24	chr6:44238905-44238955	NB4	blood:	n/a
25	chr6:44238905-44238955	HRPEpiC	eye:	n/a
26	chr6:44238905-44238955	GM12891	blood:	n/a
27	chr6:44238905-44238955	ovcar-3	ovarian:	n/a
28	chr6:44238905-44238955	AG09319	gingival:	n/a
29	chr6:44238905-44238955	HEEpiC	esophagus:	n/a
30	chr6:44238905-44238955	U87	brain:	n/a
31	chr6:44238905-44238955	SKMC	muscle:	n/a
32	chr6:44238905-44238955	HL-60	blood:	n/a
33	chr6:44238905-44238955	SK-N-MC	brain:	n/a
34	chr6:44238905-44238955	HAEpiC	amniotic membrane:	n/a
35	chr6:44238905-44238955	Jurkat	blood:	n/a
36	chr6:44238905-44238955	K562	blood:	n/a
37	chr6:44238905-44238955	Hepatocyte	liver:	n/a
38	chr6:44238905-44238955	AG04449	skin:	fetal
39	chr6:44238905-44238955	HepG2	liver:	n/a
40	chr6:44238905-44238955	HCM	heart:	n/a
41	chr6:44238905-44238955	HRE	kidney:	n/a
42	chr6:44238905-44238955	BE2_C	brain:	n/a
43	chr6:44238905-44238955	HMEC	breast:	n/a
44	chr6:44238905-44238955	PANC-1	pancreas:	n/a
45	chr6:44238905-44238955	LNCaP	prostate:	n/a
46	chr6:44238905-44238955	RPTEC	kidney:	n/a
47	chr6:44238905-44238955	NT2-D1	testis:	n/a
48	chr6:44238905-44238955	H1-hESC	embryonic stem cell:	embryo
49	chr6:44238905-44238955	HEK293	kidney:	embryo
50	chr6:44238905-44238955	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
2	chr6:44237771..44241790-chr6:44264717..44266725,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272442	TF binding region
ENSG00000272442	CpG island
ENSG00000146221	Chromatin interaction
ENSG00000146232	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv3358306	chr6:44236999-44239947	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3508275	chr6:44237449-44239997	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3508276	chr6:44237449-44239997	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3395844	chr6:44237774-44239722	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44237000-44239200	Bivalent Enhancer	HUVEC	blood vessel
2	chr6:44237600-44239000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:44237800-44239000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:44237800-44239200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:44237800-44239200	Active TSS	Brain Angular Gyrus	brain
6	chr6:44238000-44239000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:44238000-44239000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:44238000-44239000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:44238000-44239000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:44238000-44239000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:44238000-44239000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:44238000-44239000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:44238000-44239000	Active TSS	Brain Germinal Matrix	brain
14	chr6:44238000-44239000	Active TSS	Fetal Brain Female	brain
15	chr6:44238000-44239000	Active TSS	Psoas Muscle	Psoas
16	chr6:44238000-44239000	Active TSS	Right Ventricle	heart
17	chr6:44238000-44239000	Bivalent/Poised TSS	HepG2	liver
18	chr6:44238000-44239200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:44238000-44239200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:44238000-44239200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr6:44238000-44239200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:44238000-44239200	Active TSS	Brain Anterior Caudate	brain
23	chr6:44238000-44239400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:44238000-44240800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:44238200-44239000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:44238200-44239000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:44238200-44239000	Active TSS	Ovary	ovary
28	chr6:44238200-44239400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:44238400-44239000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:44238400-44239000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:44238400-44239000	Bivalent/Poised TSS	Colonic Mucosa	Colon
32	chr6:44238400-44239000	Bivalent/Poised TSS	Left Ventricle	heart
33	chr6:44238400-44239000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
34	chr6:44238400-44239000	Bivalent/Poised TSS	Small Intestine	intestine
35	chr6:44238400-44239200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:44238400-44239400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:44238400-44239600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr6:44238400-44239800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr6:44238600-44239000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr6:44238600-44239400	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr6:44238800-44239000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:44238800-44239000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr6:44238800-44239000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:44238800-44239000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr6:44238800-44239000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:44238800-44239000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr6:44238800-44239000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:44238800-44239000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:44238800-44239000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:44238800-44239000	Bivalent Enhancer	Adipose Nuclei	Adipose

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