Variant report

Variant	rs376370444
Chromosome Location	chr1:9750461-9750462
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	JUND	chr1:9750106-9750474	K562	blood:	n/a	n/a
2	SIN3A	chr1:9748978-9750817	H1-hESC	embryonic stem cell:	n/a	chr1:9750298-9750311 chr1:9750560-9750574
3	MAX	chr1:9749876-9750514	ECC-1	luminal epithelium:	n/a	chr1:9749944-9749954
4	CHD2	chr1:9750018-9750511	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZBTB7A	chr1:9748993-9750468	ECC-1	luminal epithelium:	n/a	chr1:9749244-9749253
6	CTCF	chr1:9750320-9750470	HCM	heart:	n/a	chr1:9750321-9750337 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
7	MXI1	chr1:9749957-9751852	IMR90	lung:	n/a	n/a
8	WRNIP1	chr1:9750139-9750465	GM12878	blood:	n/a	n/a
9	MAX	chr1:9749947-9750555	A549	lung:	n/a	n/a
10	CTCF	chr1:9750168-9750475	A549	lung:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
11	CTCF	chr1:9750340-9750490	HRE	kidney:	n/a	n/a
12	REST	chr1:9749817-9750595	H1-neurons	neurons:	n/a	chr1:9750561-9750575
13	MAZ	chr1:9749031-9750486	K562	blood:	n/a	chr1:9749944-9749954
14	CTCF	chr1:9750420-9750570	HPF	lung:	n/a	n/a
15	CTCF	chr1:9750162-9750493	IMR90	lung:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
16	MAZ	chr1:9746682-9751668	IMR90	lung:	n/a	chr1:9747639-9747648 chr1:9749944-9749954 chr1:9747642-9747652
17	CTCF	chr1:9750215-9750480	K562	blood:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
18	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	chr1:9746126..9748956-chr1:9749457..9751271,2	MCF-7	breast:
3	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
4	chr1:9750156..9751724-chr7:23568721..23571687,2	K562	blood:
5	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
6	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
7	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:
8	chr1:9686883..9687545-chr1:9749890..9750740,2	MCF-7	breast:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3338032	chr1:9749165-9750613	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9746800-9750600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:9747200-9750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:9748600-9750600	Active TSS	Right Atrium	heart
5	chr1:9748600-9750600	Active TSS	NHLF	lung
6	chr1:9748800-9750600	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:9749000-9750800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:9749000-9751600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:9749200-9750600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:9749200-9750600	Enhancers	Fetal Heart	heart
11	chr1:9749200-9750800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:9749200-9751000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:9749200-9751000	Active TSS	Fetal Brain Female	brain
14	chr1:9749400-9750600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:9749400-9750800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:9749400-9750800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:9749400-9750800	Enhancers	Spleen	Spleen
18	chr1:9749400-9751000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:9749400-9751600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:9750000-9750600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:9750000-9750600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:9750000-9750600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:9750000-9750600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:9750000-9750600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:9750000-9750600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:9750000-9750600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr1:9750000-9750600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr1:9750000-9750600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr1:9750000-9750600	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr1:9750000-9750600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr1:9750000-9750600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr1:9750000-9750600	Flanking Active TSS	GM12878-XiMat	blood
33	chr1:9750000-9750800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:9750000-9750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:9750000-9750800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr1:9750000-9750800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr1:9750000-9750800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr1:9750000-9750800	Flanking Active TSS	HMEC	breast
39	chr1:9750000-9750800	Flanking Active TSS	HUVEC	blood vessel
40	chr1:9750000-9751000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:9750000-9751000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:9750000-9751000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:9750000-9751000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:9750000-9751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:9750000-9751000	Flanking Active TSS	Fetal Thymus	thymus
46	chr1:9750000-9751200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:9750000-9751200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:9750000-9751200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:9750000-9751200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:9750000-9751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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