Variant report

Variant	rs2735076
Chromosome Location	chr6:29943490-29943491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:29942917-29943629	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:29943460-29943610	HRE	kidney:	n/a	n/a
3	E2F6	chr6:29942686-29943660	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr6:29943179-29943683	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:29943440-29943590	GM12874	blood:	n/a	n/a
6	E2F6	chr6:29942891-29943637	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr6:29942882-29943628	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29943460-29943510	HCF	heart:	n/a
2	chr6:29943455-29943505	GM06990	blood:	n/a
3	chr6:29943480-29943530	A549	lung:	n/a
4	chr6:29943455-29943505	SKMC	muscle:	n/a
5	chr6:29943455-29943505	AoSMC	blood vessel:	n/a
6	chr6:29943455-29943505	H1-hESC	embryonic stem cell:	embryo
7	chr6:29943480-29943530	PFSK-1	brain:	n/a
8	chr6:29943464-29943514	HMEC	breast:	n/a
9	chr6:29943460-29943510	PrEC	prostate:	n/a
10	chr6:29943460-29943510	HEK293	kidney:	embryo
11	chr6:29943480-29943530	NH-A	brain:	n/a
12	chr6:29943455-29943505	SK-N-SH_RA	brain:	n/a
13	chr6:29943480-29943530	HL-60	blood:	n/a
14	chr6:29943455-29943505	A549	lung:	n/a
15	chr6:29943464-29943514	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:29943455-29943505	GM12878	blood:	n/a
17	chr6:29943464-29943514	HIPEpiC	eye:	n/a
18	chr6:29943480-29943530	MCF10A-Er-Src	breast:	n/a
19	chr6:29943460-29943510	HRPEpiC	eye:	n/a
20	chr6:29943480-29943530	MCF-7	breast:	n/a
21	chr6:29943464-29943514	HRE	kidney:	n/a
22	chr6:29943460-29943510	SAEC	small airway:	n/a
23	chr6:29943464-29943514	IMR90	lung:	fetal
24	chr6:29943480-29943530	GM12891	blood:	n/a
25	chr6:29943480-29943530	BE2_C	brain:	n/a
26	chr6:29943455-29943505	Caco-2	colon:	n/a
27	chr6:29943460-29943510	AG10803	skin:	n/a
28	chr6:29943460-29943510	ovcar-3	ovarian:	n/a
29	chr6:29943455-29943505	HMEC	breast:	n/a
30	chr6:29943480-29943530	SK-N-SH	brain:	n/a
31	chr6:29943464-29943514	HL-60	blood:	n/a
32	chr6:29943455-29943505	HAEpiC	amniotic membrane:	n/a
33	chr6:29943460-29943510	Caco-2	colon:	n/a
34	chr6:29943480-29943530	HIPEpiC	eye:	n/a
35	chr6:29943460-29943510	GM12878	blood:	n/a
36	chr6:29943460-29943510	H1-hESC	embryonic stem cell:	embryo
37	chr6:29943480-29943530	K562	blood:	n/a
38	chr6:29943464-29943514	NHDF-neo	bronchial:	n/a
39	chr6:29943480-29943530	HMEC	breast:	n/a
40	chr6:29943460-29943510	GM12892	blood:	n/a
41	chr6:29943460-29943510	MCF-7	breast:	n/a
42	chr6:29943464-29943514	HRCEpiC	kidney:	n/a
43	chr6:29943464-29943514	GM12892	blood:	n/a
44	chr6:29943464-29943514	CMK	blood:	n/a
45	chr6:29943460-29943510	AG09309	skin:	n/a
46	chr6:29943455-29943505	HCT-116	colon:	n/a
47	chr6:29943455-29943505	HUVEC	blood vessel:	n/a
48	chr6:29943464-29943514	HCM	heart:	n/a
49	chr6:29943480-29943530	GM06990	blood:	n/a
50	chr6:29943460-29943510	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:29943013..29944901-chr6:29959011..29961264,2	K562	blood:
2	chr6:29933916..29936718-chr6:29943405..29945040,3	MCF-7	breast:
3	chr6:29943470..29945184-chr6:29952031..29954167,2	K562	blood:

No data

Variant related genes	Relation type
HCG9	TF binding region
MICD	TF binding region
HCG9	CpG island
MICD	CpG island
ENSG00000238024	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2245952	0.82[ASN][1000 genomes]
rs4313034	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv3332677	chr6:29733187-29961463	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3430372	chr6:29759523-29974277	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758040	chr6:29792434-29975144	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv2759412	chr6:29792434-29975144	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3391180	chr6:29798321-29977430	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1845786	chr6:29817123-29955129	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1848127	chr6:29817323-29966451	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	esv3369212	chr6:29827361-29960177	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	esv32544	chr6:29831716-29944103	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv2757159	chr6:29834472-29965501	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	esv3376588	chr6:29834667-29964324	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv10810	chr6:29837465-29961415	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv870444	chr6:29842885-29949545	Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3373906	chr6:29884407-29977070	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	esv2641340	chr6:29913287-29978544	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv3378806	chr6:29913464-29978179	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv3496792	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	esv3496793	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv984584	chr6:29932342-29943951	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
23	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
24	esv1799283	chr6:29938777-29959935	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	esv3350882	chr6:29942373-29945471	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2735076	ZKSCAN3	cis	cerebellum	SCAN
rs2735076	ZNRD1	cis	multi-tissue	Pritchard
rs2735076	HCG4P6	Cis_1M	lymphoblastoid	RTeQTL
rs2735076	ZNRD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29934400-29944200	Weak transcription	Aorta	Aorta
2	chr6:29935600-29944800	Weak transcription	Dnd41	blood
3	chr6:29941600-29944400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:29942400-29943600	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr6:29942400-29943600	Flanking Active TSS	Spleen	Spleen
6	chr6:29942600-29943600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr6:29942600-29943600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:29942600-29944200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr6:29942600-29944400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr6:29942600-29944400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr6:29942600-29944400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr6:29942600-29945200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:29942600-29945400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:29942600-29945400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:29942800-29943600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:29942800-29943600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:29942800-29943600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:29942800-29943600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr6:29942800-29943600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr6:29942800-29943600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:29942800-29943600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr6:29942800-29943600	Flanking Active TSS	Left Ventricle	heart
23	chr6:29942800-29943600	Flanking Active TSS	Pancreas	Pancrea
24	chr6:29942800-29943600	Flanking Active TSS	Right Ventricle	heart
25	chr6:29942800-29943600	Active TSS	HSMMtube	muscle
26	chr6:29942800-29943800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:29942800-29943800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:29942800-29943800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:29942800-29943800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
30	chr6:29942800-29944000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:29942800-29944200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr6:29942800-29944200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr6:29942800-29944400	Bivalent Enhancer	Fetal Thymus	thymus
34	chr6:29942800-29944400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr6:29942800-29944400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:29942800-29945400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:29943000-29943600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr6:29943000-29943600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:29943000-29943600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:29943000-29943600	Enhancers	Liver	Liver
46	chr6:29943000-29943600	Active TSS	Colon Smooth Muscle	Colon
47	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
48	chr6:29943000-29943600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr6:29943000-29943600	Flanking Active TSS	Gastric	stomach
50	chr6:29943000-29943600	Flanking Active TSS	Right Atrium	heart

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