Variant report

Variant	rs74665989
Chromosome Location	chr1:9750686-9750687
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	SIN3A	chr1:9748978-9750817	H1-hESC	embryonic stem cell:	n/a	chr1:9750298-9750311 chr1:9750560-9750574
2	MXI1	chr1:9749957-9751852	IMR90	lung:	n/a	n/a
3	HMGN3	chr1:9750592-9750707	K562	blood:	n/a	n/a
4	ELF1	chr1:9750504-9751086	GM12878	blood:	n/a	n/a
5	MAZ	chr1:9746682-9751668	IMR90	lung:	n/a	chr1:9747639-9747648 chr1:9749944-9749954 chr1:9747642-9747652
6	TEAD4	chr1:9750423-9750810	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9749593..9751802-chr1:9777886..9780307,2	K562	blood:
2	chr1:9716271..9718491-chr1:9750491..9752827,2	K562	blood:
3	chr1:9746126..9748956-chr1:9749457..9751271,2	MCF-7	breast:
4	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
5	chr1:9750156..9751724-chr7:23568721..23571687,2	K562	blood:
6	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
7	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
8	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:
9	chr1:9686883..9687545-chr1:9749890..9750740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000231789	Chromatin interaction
ENSG00000164548	Chromatin interaction
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3408612	chr1:9748390-9751238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3426414	chr1:9748415-9751113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:9749000-9750800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:9749000-9751600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:9749200-9750800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:9749200-9751000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:9749200-9751000	Active TSS	Fetal Brain Female	brain
7	chr1:9749400-9750800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:9749400-9750800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:9749400-9750800	Enhancers	Spleen	Spleen
10	chr1:9749400-9751000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:9749400-9751600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:9750000-9750800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:9750000-9750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:9750000-9750800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr1:9750000-9750800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr1:9750000-9750800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr1:9750000-9750800	Flanking Active TSS	HMEC	breast
18	chr1:9750000-9750800	Flanking Active TSS	HUVEC	blood vessel
19	chr1:9750000-9751000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:9750000-9751000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr1:9750000-9751000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:9750000-9751000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:9750000-9751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:9750000-9751000	Flanking Active TSS	Fetal Thymus	thymus
25	chr1:9750000-9751200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:9750000-9751200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:9750000-9751200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:9750000-9751200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:9750000-9751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:9750000-9751200	Flanking Active TSS	Osteobl	bone
31	chr1:9750000-9751400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:9750200-9750800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:9750200-9750800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:9750200-9750800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:9750200-9750800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:9750200-9750800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:9750200-9750800	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr1:9750200-9750800	Flanking Active TSS	K562	blood
39	chr1:9750200-9750800	Flanking Active TSS	NHEK	skin
40	chr1:9750200-9751000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:9750200-9751000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:9750200-9751000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:9750200-9751000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr1:9750200-9751200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:9750200-9751400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:9750200-9751400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:9750200-9751400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr1:9750200-9751400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr1:9750200-9751400	Bivalent Enhancer	Placenta	Placenta
50	chr1:9750200-9751800	Genic enhancers	Primary monocytes fromperipheralblood	blood

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