Variant report

Variant	rs6974845
Chromosome Location	chr7:27285297-27285298
allele	A/C
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	SUZ12	chr7:27280823-27287156	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr7:27284316-27286575	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:27281809-27287391	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr7:27285241-27285857	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27230275-27238414..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo
2	chr7:27279764..27282152-chr7:27285274..27287465,2	K562	blood:

Variant related genes	Relation type
EVX1	TF binding region
EVX1-AS	TF binding region
ENSG00000253308	TF binding region
ENSG00000253308	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000253508	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17501773	1.00[YRI][hapmap]
rs17501871	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
8	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
12	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
13	nsv531024	chr7:27194426-27461954	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 ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
17	nsv1026327	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
18	nsv538808	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
19	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
20	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
21	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
22	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27280000-27285600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr7:27282000-27285400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr7:27282200-27286200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
4	chr7:27283200-27285600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:27283800-27285400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
7	chr7:27284000-27285400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr7:27284000-27285600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:27284200-27285400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
10	chr7:27284200-27285800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
11	chr7:27284200-27286800	Bivalent Enhancer	Lung	lung
12	chr7:27284400-27286000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr7:27284400-27286200	Bivalent Enhancer	Left Ventricle	heart
14	chr7:27284400-27286200	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr7:27284400-27286400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr7:27284600-27285400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:27284600-27285400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:27284600-27285400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:27284600-27285600	Bivalent Enhancer	Esophagus	oesophagus
20	chr7:27284600-27285800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:27284600-27285800	Bivalent Enhancer	Brain Anterior Caudate	brain
22	chr7:27284600-27286000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr7:27284600-27286000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr7:27284600-27286200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr7:27284600-27286200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr7:27284600-27286200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
27	chr7:27284600-27286400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr7:27284800-27285400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr7:27284800-27285400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr7:27284800-27285400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:27284800-27285400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:27284800-27285400	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr7:27284800-27285400	Bivalent Enhancer	Fetal Brain Female	brain
34	chr7:27284800-27285600	Bivalent Enhancer	Brain Angular Gyrus	brain
35	chr7:27284800-27285800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:27284800-27286000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:27284800-27286000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:27284800-27286000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:27284800-27286000	Bivalent Enhancer	Fetal Heart	heart
40	chr7:27284800-27286200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr7:27284800-27286200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr7:27284800-27286200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr7:27284800-27286200	Bivalent Enhancer	Fetal Brain Male	brain
44	chr7:27284800-27286400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr7:27285000-27285400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr7:27285000-27285600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr7:27285000-27285600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
48	chr7:27285000-27286000	Bivalent Enhancer	Liver	Liver
49	chr7:27285000-27286200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:27285000-27286200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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