Variant report

Variant	rs372496850
Chromosome Location	chr6:88118135-88118136
allele	C/G
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	ZC3H11A	chr6:88117814-88118136	K562	blood:	n/a	n/a
2	MAX	chr6:88117636-88118275	A549	lung:	n/a	chr6:88117668-88117678
3	PAX5	chr6:88117860-88118221	GM12891	blood:	n/a	chr6:88118061-88118079 chr6:88118059-88118078
4	CTCF	chr6:88118000-88118150	NHDF-neo	bronchial:	n/a	n/a
5	POLR2A	chr6:88117676-88118172	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr6:88117481-88118536	Hela-S3	cervix:	n/a	n/a
7	JUND	chr6:88117740-88118721	K562	blood:	n/a	n/a
8	MXI1	chr6:88117721-88118619	GM12878	blood:	n/a	n/a
9	REST	chr6:88117071-88118950	H1-neurons	neurons:	n/a	chr6:88117696-88117705 chr6:88117650-88117663 chr6:88117455-88117468 chr6:88118130-88118138
10	POLR2A	chr6:88117758-88118568	Hela-S3	cervix:	n/a	n/a
11	MYBL2	chr6:88117662-88118146	HepG2	liver:	n/a	n/a
12	YY1	chr6:88117662-88118187	GM12892	blood:	n/a	chr6:88117667-88117676
13	UBTF	chr6:88117463-88118232	K562	blood:	n/a	n/a
14	ZNF143	chr6:88117834-88118137	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:88117919-88118404	A549	lung:	n/a	n/a
16	MAZ	chr6:88117288-88118597	K562	blood:	n/a	chr6:88117668-88117678
17	RCOR1	chr6:88117176-88118744	K562	blood:	n/a	n/a
18	POLR2A	chr6:88117300-88118695	MCF-7	breast:	n/a	n/a
19	NR2F2	chr6:88117529-88118214	MCF-7	breast:	n/a	n/a
20	TCF3	chr6:88118090-88118417	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:88117658-88118458	A549	lung:	n/a	n/a
22	ELF1	chr6:88117661-88118361	GM12878	blood:	n/a	chr6:88117988-88117997 chr6:88118156-88118165 chr6:88117838-88117847 chr6:88117817-88117829
23	TAF1	chr6:88118043-88118464	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXM1	chr6:88117588-88118367	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr6:88117520-88118371	PANC-1	pancreas:	n/a	n/a
26	PAX5	chr6:88117809-88118390	GM12878	blood:	n/a	chr6:88118061-88118079 chr6:88118059-88118078
27	SPI1	chr6:88118133-88118338	K562	blood:	n/a	n/a
28	MAFK	chr6:88117957-88118747	Hela-S3	cervix:	n/a	chr6:88118596-88118607 chr6:88118597-88118608 chr6:88118596-88118607
29	MAX	chr6:88117633-88118221	K562	blood:	n/a	chr6:88117668-88117678
30	NR2F2	chr6:88117787-88118611	K562	blood:	n/a	n/a
31	TBP	chr6:88117727-88118618	K562	blood:	n/a	n/a
32	NRF1	chr6:88117964-88118563	H1-hESC	embryonic stem cell:	n/a	chr6:88118350-88118359 chr6:88118354-88118365 chr6:88118354-88118368 chr6:88118356-88118365 chr6:88118354-88118363 chr6:88118351-88118365 chr6:88118353-88118364
33	SMC3	chr6:88117671-88118700	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr6:88117472-88118626	HepG2	liver:	n/a	chr6:88117659-88117668
35	TCF7L2	chr6:88117848-88118519	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:88117533-88118729	H1-neurons	neurons:	n/a	n/a
37	UBTF	chr6:88117766-88118156	K562	blood:	n/a	n/a
38	SIN3A	chr6:88117738-88118610	GM12878	blood:	n/a	n/a
39	SIN3A	chr6:88117397-88118647	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:88117918-88118234	SK-N-SH	brain:	n/a	n/a
41	E2F4	chr6:88117794-88118467	MCF10A-Er-Src	breast:	n/a	chr6:88118355-88118364 chr6:88117870-88117880 chr6:88117888-88117898
42	PML	chr6:88117667-88118306	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr6:88117837-88118515	GM12878	blood:	n/a	n/a
44	CTCF	chr6:88117697-88118140	K562	blood:	n/a	chr6:88117985-88117998
45	POLR2A	chr6:88117752-88118431	A549	lung:	n/a	n/a
46	NRF1	chr6:88117930-88118582	GM12878	blood:	n/a	chr6:88118350-88118359 chr6:88118354-88118365 chr6:88118354-88118368 chr6:88118356-88118365 chr6:88118354-88118363 chr6:88118351-88118365 chr6:88118353-88118364 chr6:88117952-88117966
47	POLR2A	chr6:88117742-88118353	ProgFib	skin:	n/a	n/a
48	GATA2	chr6:88117765-88118648	SH-SY5Y	brain:	n/a	chr6:88118365-88118376
49	GATA1	chr6:88117907-88118776	PBDE	blood:	n/a	chr6:88118365-88118376
50	MAX	chr6:88117657-88118588	Hela-S3	cervix:	n/a	chr6:88117668-88117678

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88116849..88119599-chr6:88181543..88183591,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272514	TF binding region
ENSG00000164414	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830722	chr6:88054186-88223625	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1979464	chr6:88117983-88118500	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3520620	chr6:88118068-88118409	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3520621	chr6:88118081-88118437	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3472936	chr6:88118090-88118374	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3520623	chr6:88118109-88118343	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3520622	chr6:88118125-88118366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3472937	chr6:88118131-88118334	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88116800-88118400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr6:88116800-88118600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr6:88116800-88118800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:88116800-88119000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:88116800-88119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:88116800-88119000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:88116800-88119000	Active TSS	NHDF-Ad	bronchial
8	chr6:88117000-88118400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:88117000-88118400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:88117000-88118400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr6:88117000-88118400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:88117000-88118400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:88117000-88118400	Active TSS	GM12878-XiMat	blood
14	chr6:88117000-88118400	Active TSS	HMEC	breast
15	chr6:88117000-88118400	Active TSS	HSMM	muscle
16	chr6:88117000-88118400	Active TSS	NHEK	skin
17	chr6:88117000-88118600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:88117000-88118600	Active TSS	Adipose Nuclei	Adipose
19	chr6:88117000-88118600	Active TSS	HSMMtube	muscle
20	chr6:88117000-88118800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:88117000-88118800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:88117000-88118800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:88117000-88118800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:88117000-88118800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:88117000-88118800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:88117000-88118800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:88117000-88118800	Active TSS	Brain Angular Gyrus	brain
28	chr6:88117000-88118800	Active TSS	Brain Hippocampus Middle	brain
29	chr6:88117000-88118800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:88117000-88118800	Active TSS	Colonic Mucosa	Colon
31	chr6:88117000-88118800	Active TSS	Fetal Brain Male	brain
32	chr6:88117000-88118800	Active TSS	Fetal Stomach	stomach
33	chr6:88117000-88118800	Active TSS	Ovary	ovary
34	chr6:88117000-88118800	Active TSS	Right Atrium	heart
35	chr6:88117000-88118800	Active TSS	Stomach Smooth Muscle	stomach
36	chr6:88117000-88118800	Active TSS	A549	lung
37	chr6:88117000-88119000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:88117000-88119000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:88117000-88119000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:88117000-88119000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:88117000-88119000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:88117000-88119000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:88117000-88119000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:88117000-88119000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:88117000-88119000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:88117000-88119000	Active TSS	Brain Anterior Caudate	brain
47	chr6:88117000-88119000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:88117000-88119000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:88117000-88119000	Active TSS	K562	blood
50	chr6:88117000-88119000	Active TSS	NH-A	brain

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