Variant report

Variant	rs185679677
Chromosome Location	chr1:246956977-246956978
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	POLR2A	chr1:246956803-246957071	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246947863..246950737-chr1:246955534..246958026,3	K562	blood:

Variant related genes	Relation type
KIF28P	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv525154	chr1:246954166-246963019	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3340001	chr1:246956154-246958702	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3438105	chr1:246956529-246958527	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246949000-246957600	Weak transcription	NHDF-Ad	bronchial
2	chr1:246949400-246957600	Weak transcription	NHLF	lung
3	chr1:246952600-246957600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:246952600-246957800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:246952800-246957000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:246952800-246957000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:246952800-246957600	Weak transcription	Fetal Brain Female	brain
8	chr1:246952800-246957800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:246953000-246957600	Weak transcription	Fetal Heart	heart
10	chr1:246953000-246957600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:246953000-246957600	Weak transcription	Right Ventricle	heart
12	chr1:246953000-246957800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:246953200-246957600	Weak transcription	Spleen	Spleen
14	chr1:246953400-246957000	Weak transcription	Gastric	stomach
15	chr1:246953400-246957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:246953400-246957600	Weak transcription	Fetal Lung	lung
17	chr1:246953400-246957600	Weak transcription	Ovary	ovary
18	chr1:246953400-246958000	Weak transcription	Fetal Kidney	kidney
19	chr1:246953400-246961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:246954800-246957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:246955600-246959400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:246956000-246957600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:246956200-246957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:246956200-246959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:246956200-246959200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:246956200-246959400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:246956400-246957000	Enhancers	A549	lung
28	chr1:246956400-246958400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:246956400-246958600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:246956400-246959200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:246956400-246959200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:246956400-246959200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:246956400-246959400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:246956400-246959400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:246956400-246959800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:246956600-246957600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:246956600-246958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:246956600-246958400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:246956600-246958800	Enhancers	Placenta	Placenta
40	chr1:246956600-246959800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:246956800-246957000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:246956800-246957000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:246956800-246957000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr1:246956800-246957000	Enhancers	Fetal Muscle Leg	muscle
45	chr1:246956800-246957000	Bivalent Enhancer	HepG2	liver
46	chr1:246956800-246957200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:246956800-246957200	Enhancers	Fetal Brain Male	brain
48	chr1:246956800-246957200	Enhancers	Fetal Intestine Large	intestine
49	chr1:246956800-246957600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:246956800-246957600	Enhancers	Hela-S3	cervix

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