Variant report

Variant	rs145215704
Chromosome Location	chr6:30435123-30435124
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	ZNF263	chr6:30435081-30435395	HEK293-T-REx	kidney:	n/a	chr6:30435186-30435207

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
2	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:

Variant related genes	Relation type
SUCLA2P1	TF binding region
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
6	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
12	nsv884071	chr6:30433090-30444357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv884072	chr6:30433611-30447987	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv884073	chr6:30434566-30445476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv884074	chr6:30434566-30447987	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv884075	chr6:30434566-30449046	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
18	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30434200-30435200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:30434200-30435200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr6:30434200-30435200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
4	chr6:30434400-30435200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
5	chr6:30434600-30435200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30434600-30435200	Bivalent Enhancer	Colon Smooth Muscle	Colon
7	chr6:30434600-30435200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr6:30434600-30435400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:30434800-30435200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr6:30434800-30435200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:30434800-30435200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr6:30434800-30435200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr6:30434800-30435200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
14	chr6:30434800-30435200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:30434800-30435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:30434800-30435200	Bivalent Enhancer	Liver	Liver
17	chr6:30434800-30435200	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr6:30434800-30435200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr6:30434800-30435200	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr6:30434800-30435200	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr6:30434800-30435200	Bivalent Enhancer	Fetal Thymus	thymus
22	chr6:30434800-30435200	Bivalent Enhancer	Left Ventricle	heart
23	chr6:30434800-30435200	Enhancers	Pancreas	Pancrea
24	chr6:30434800-30435200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr6:30434800-30435200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr6:30434800-30435200	Bivalent Enhancer	HMEC	breast
27	chr6:30434800-30435400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:30434800-30435400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr6:30434800-30435400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:30434800-30435400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr6:30434800-30435400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
32	chr6:30434800-30435600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:30434800-30435600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr6:30434800-30435600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:30434800-30435600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30434800-30435600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:30434800-30435600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:30435000-30435200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:30435000-30435200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr6:30435000-30435200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
41	chr6:30435000-30435200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:30435000-30435200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
43	chr6:30435000-30435200	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr6:30435000-30435400	Bivalent Enhancer	Primary T cells from cord blood	blood
45	chr6:30435000-30435400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr6:30435000-30435400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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