Variant report

Variant	rs78829190
Chromosome Location	chr8:87354255-87354256
allele	A/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	SIN3AK20	chr8:87353102-87355951	MCF-7	breast:	n/a	n/a
2	WRNIP1	chr8:87354066-87354887	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:87354212-87355221	HEK293	kidney:	n/a	n/a
4	FOXA1	chr8:87354208-87354902	T-47D	breast:	n/a	n/a
5	GATA3	chr8:87353824-87354286	T-47D	breast:	n/a	chr8:87354009-87354020
6	TCF7L2	chr8:87353895-87354595	MCF-7	breast:	n/a	n/a
7	NFYB	chr8:87354174-87354908	GM12878	blood:	n/a	chr8:87354428-87354438
8	POLR2A	chr8:87353918-87355892	GM12891	blood:	n/a	n/a
9	MAFK	chr8:87354110-87354787	Hela-S3	cervix:	n/a	n/a
10	MAX	chr8:87354143-87354998	SK-N-SH	brain:	n/a	n/a
11	MAX	chr8:87354139-87354350	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:87354062-87355624	Hela-S3	cervix:	n/a	n/a
13	MYBL2	chr8:87354161-87354781	HepG2	liver:	n/a	n/a
14	TCF12	chr8:87353865-87355022	A549	lung:	n/a	n/a
15	MAX	chr8:87354082-87355355	K562	blood:	n/a	n/a
16	TBP	chr8:87354159-87355075	HepG2	liver:	n/a	n/a
17	RAD21	chr8:87354236-87354537	HepG2	liver:	n/a	n/a
18	STAT3	chr8:87354172-87354766	MCF10A-Er-Src	breast:	n/a	chr8:87354652-87354664
19	ELK1	chr8:87354237-87354902	GM12878	blood:	n/a	n/a
20	ELF1	chr8:87353713-87355083	MCF-7	breast:	n/a	n/a
21	MYC	chr8:87354147-87355203	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA1	chr8:87354209-87354831	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:87353813-87355583	Hela-S3	cervix:	n/a	n/a
24	HA-E2F1	chr8:87353765-87355534	MCF-7	breast:	n/a	chr8:87355044-87355054 chr8:87355199-87355211 chr8:87355038-87355048 chr8:87355071-87355086
25	POLR2A	chr8:87354176-87355733	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:87354214-87354835	U87	brain:	n/a	n/a
27	ZNF384	chr8:87354196-87354853	K562	blood:	n/a	n/a
28	FOXA2	chr8:87354217-87354870	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:87354232-87355774	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr8:87353355-87355613	MCF-7	breast:	n/a	n/a
31	KAP1	chr8:87353742-87354591	HEK293	kidney:	n/a	n/a
32	MAX	chr8:87353871-87355592	Hela-S3	cervix:	n/a	n/a
33	IRF1	chr8:87354215-87354904	K562	blood:	n/a	chr8:87354624-87354638 chr8:87354648-87354662 chr8:87354667-87354676
34	RCOR1	chr8:87353890-87355874	K562	blood:	n/a	n/a
35	RCOR1	chr8:87353883-87355542	Hela-S3	cervix:	n/a	n/a
36	REST	chr8:87354128-87354785	A549	lung:	n/a	n/a
37	SMARCB1	chr8:87354195-87355628	Hela-S3	cervix:	n/a	n/a
38	EP300	chr8:87354088-87354761	GM12878	blood:	n/a	chr8:87354622-87354631
39	KAP1	chr8:87353960-87354615	U2OS	brain:	n/a	n/a
40	POLR2A	chr8:87353881-87355863	Hela-S3	cervix:	n/a	n/a
41	SP1	chr8:87353849-87355131	HCT-116	colon:	n/a	chr8:87354651-87354660 chr8:87354656-87354677 chr8:87354651-87354661 chr8:87354626-87354638 chr8:87354938-87354952 chr8:87354650-87354661 chr8:87354627-87354637 chr8:87354627-87354641 chr8:87354651-87354660 chr8:87354628-87354637 chr8:87354626-87354638 chr8:87354651-87354665 chr8:87354627-87354636 chr8:87354650-87354662 chr8:87354626-87354637 chr8:87354652-87354661 chr8:87354942-87354951 chr8:87354650-87354662 chr8:87354942-87354952 chr8:87354627-87354636 chr8:87354651-87354661 chr8:87354627-87354637
42	FOSL2	chr8:87354197-87354803	A549	lung:	n/a	chr8:87354704-87354718
43	MAX	chr8:87353502-87355834	MCF-7	breast:	n/a	n/a
44	POLR2A	chr8:87354184-87355624	HUVEC	blood vessel:	n/a	n/a
45	RAD21	chr8:87353880-87354596	Hela-S3	cervix:	n/a	n/a
46	ARID3A	chr8:87354181-87354913	HepG2	liver:	n/a	chr8:87354388-87354404
47	POLR2A	chr8:87354167-87355165	HCT-116	colon:	n/a	n/a
48	TAF1	chr8:87353777-87355645	MCF-7	breast:	n/a	n/a
49	MXI1	chr8:87354027-87355747	Hela-S3	cervix:	n/a	chr8:87354066-87354075
50	POLR2A	chr8:87353934-87355838	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87343507..87346048-chr8:87352479..87354263,2	MCF-7	breast:
2	chr8:87341673..87343507-chr8:87352769..87354965,2	MCF-7	breast:
3	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
4	chr8:87211911..87212654-chr8:87354020..87354928,4	MCF-7	breast:
5	chr8:87278061..87279792-chr8:87353033..87354538,2	MCF-7	breast:
6	chr8:87212248..87212786-chr8:87354095..87354953,3	MCF-7	breast:
7	chr16:4321381..4322334-chr8:87354060..87354602,2	Hela-S3	cervix:
8	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:
9	chr16:89574422..89575143-chr8:87354172..87354741,2	HCT-116	colon:
10	chr8:87212248..87212786-chr8:87354095..87354895,2	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000164893	Chromatin interaction
ENSG00000197912	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3358016	chr8:87353861-87356409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353126	chr8:87353861-87356559	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87353600-87354400	Flanking Active TSS	Hela-S3	cervix
2	chr8:87353600-87354400	Flanking Active TSS	NHEK	skin
3	chr8:87353600-87354600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:87353800-87354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr8:87353800-87354400	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr8:87353800-87354400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:87353800-87354400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:87353800-87354400	Enhancers	Small Intestine	intestine
10	chr8:87353800-87354600	Flanking Active TSS	Dnd41	blood
11	chr8:87353800-87356000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:87353800-87356000	Active TSS	Brain Hippocampus Middle	brain
13	chr8:87353800-87356000	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:87354000-87354400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:87354000-87354400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:87354000-87354400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:87354000-87354400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:87354000-87354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:87354000-87354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:87354000-87354400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:87354000-87354400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr8:87354000-87354400	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr8:87354000-87354400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:87354000-87354400	Flanking Active TSS	Fetal Heart	heart
27	chr8:87354000-87354400	Flanking Active TSS	Psoas Muscle	Psoas
28	chr8:87354000-87354400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr8:87354000-87354400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:87354000-87354400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr8:87354000-87354400	Flanking Active TSS	Stomach Mucosa	stomach
32	chr8:87354000-87354400	Flanking Active TSS	K562	blood
33	chr8:87354000-87354400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr8:87354000-87354400	Flanking Active TSS	Osteobl	bone
35	chr8:87354000-87354600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:87354000-87354600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr8:87354000-87354600	Flanking Active TSS	HMEC	breast
38	chr8:87354000-87355400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:87354000-87355800	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:87354000-87355800	Active TSS	Gastric	stomach
41	chr8:87354000-87355800	Active TSS	Pancreas	Pancrea
42	chr8:87354000-87356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:87354000-87356000	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:87354000-87356200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:87354000-87356200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:87354000-87356200	Active TSS	Fetal Intestine Small	intestine
47	chr8:87354000-87356200	Active TSS	A549	lung
48	chr8:87354000-87356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:87354000-87356400	Active TSS	HSMMtube	muscle
50	chr8:87354000-87356600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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