Variant report

Variant	rs537919248
Chromosome Location	chr10:96162231-96162232
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	POLR2A	chr10:96161838-96163858	GM18505	blood:	n/a	n/a
2	HMGN3	chr10:96162045-96163528	K562	blood:	n/a	n/a
3	POLR2A	chr10:96161821-96162633	Hela-S3	cervix:	n/a	n/a
4	ATF2	chr10:96161841-96162276	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr10:96161938-96162868	K562	blood:	n/a	n/a
6	REST	chr10:96161755-96162536	A549	lung:	n/a	n/a
7	ELF1	chr10:96161936-96163708	GM12878	blood:	n/a	chr10:96162281-96162293
8	POLR2A	chr10:96161879-96163809	GM12892	blood:	n/a	n/a
9	YY1	chr10:96161911-96163527	HepG2	liver:	n/a	chr10:96162090-96162098 chr10:96162279-96162288 chr10:96162274-96162288 chr10:96162279-96162290
10	TAF1	chr10:96161940-96162440	GM12878	blood:	n/a	n/a
11	BACH1	chr10:96161959-96163255	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr10:96161939-96163674	HepG2	liver:	n/a	n/a
13	USF1	chr10:96161834-96162351	A549	lung:	n/a	chr10:96162269-96162285
14	CBX3	chr10:96161771-96162241	K562	blood:	n/a	n/a
15	USF1	chr10:96161989-96162297	K562	blood:	n/a	chr10:96162269-96162285
16	POLR2A	chr10:96162010-96162633	A549	lung:	n/a	n/a
17	SIN3AK20	chr10:96161730-96163900	PANC-1	pancreas:	n/a	n/a
18	GATA3	chr10:96161763-96162741	A549	lung:	n/a	n/a
19	CREB1	chr10:96161921-96163009	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:96161887-96162513	HUVEC	blood vessel:	n/a	n/a
21	TAF1	chr10:96162041-96162536	K562	blood:	n/a	n/a
22	SP2	chr10:96161820-96162326	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr10:96161992-96162241	HepG2	liver:	n/a	chr10:96162187-96162196 chr10:96162185-96162196 chr10:96162182-96162196
24	POLR2A	chr10:96161864-96163829	GM19099	blood:	n/a	n/a
25	TCF12	chr10:96162002-96162639	GM12878	blood:	n/a	n/a
26	BCLAF1	chr10:96161767-96162712	GM12878	blood:	n/a	chr10:96162279-96162292 chr10:96162275-96162288 chr10:96162345-96162358
27	SRF	chr10:96161736-96162464	MCF-7	breast:	n/a	chr10:96161963-96161976 chr10:96161965-96161976 chr10:96161964-96161975 chr10:96161961-96161978 chr10:96161963-96161974 chr10:96161965-96161974 chr10:96161959-96161977 chr10:96161964-96161981 chr10:96161962-96161977 chr10:96161963-96161976
28	ZEB1	chr10:96162092-96162611	GM12878	blood:	n/a	n/a
29	CHD2	chr10:96162018-96162281	HepG2	liver:	n/a	n/a
30	MAX	chr10:96161781-96162738	MCF-7	breast:	n/a	n/a
31	POLR2A	chr10:96161933-96162596	GM12878	blood:	n/a	n/a
32	MYC	chr10:96161939-96162774	MCF10A-Er-Src	breast:	n/a	n/a
33	CREB1	chr10:96161849-96162867	A549	lung:	n/a	n/a
34	TAF1	chr10:96161871-96162641	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr10:96161874-96163725	Hela-S3	cervix:	n/a	n/a
36	ATF1	chr10:96161937-96162267	K562	blood:	n/a	n/a
37	POLR2A	chr10:96161938-96162860	Gliobla	brain:	n/a	n/a
38	YY1	chr10:96161974-96162512	K562	blood:	n/a	chr10:96162090-96162098 chr10:96162279-96162288 chr10:96162274-96162288 chr10:96162279-96162290
39	POLR2A	chr10:96161982-96163121	MCF-7	breast:	n/a	n/a
40	STAT3	chr10:96161962-96162289	MCF10A-Er-Src	breast:	n/a	n/a
41	MXI1	chr10:96161855-96163759	HepG2	liver:	n/a	n/a
42	YY1	chr10:96161975-96162242	HCT-116	colon:	n/a	chr10:96162090-96162098
43	ZBTB7A	chr10:96161932-96162588	ECC-1	luminal epithelium:	n/a	n/a
44	GATA3	chr10:96161831-96162397	T-47D	breast:	n/a	n/a
45	PAX5	chr10:96162022-96162366	GM12892	blood:	n/a	chr10:96162186-96162195
46	ZBTB33	chr10:96161801-96162390	SK-N-SH	brain:	n/a	n/a
47	YY1	chr10:96161881-96163081	GM12878	blood:	n/a	chr10:96162090-96162098 chr10:96162279-96162288 chr10:96162274-96162288 chr10:96162279-96162290
48	NRF1	chr10:96161842-96162801	SK-N-SH	brain:	n/a	chr10:96162185-96162196 chr10:96162187-96162196 chr10:96162185-96162196 chr10:96162203-96162214 chr10:96162182-96162196
49	TAF1	chr10:96161999-96162461	PFSK-1	brain:	n/a	n/a
50	RELA	chr10:96161870-96162526	GM15510	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96162189-96162239	GM12878	blood:	n/a
2	chr10:96162189-96162239	NHDF-neo	bronchial:	n/a
3	chr10:96162189-96162239	GM06990	blood:	n/a
4	chr10:96162189-96162239	K562	blood:	n/a
5	chr10:96162189-96162239	RPTEC	kidney:	n/a
6	chr10:96162189-96162239	HRCEpiC	kidney:	n/a
7	chr10:96162189-96162239	AoSMC	blood vessel:	n/a
8	chr10:96162189-96162239	HL-60	blood:	n/a
9	chr10:96162189-96162239	BE2_C	brain:	n/a
10	chr10:96162189-96162239	HMEC	breast:	n/a
11	chr10:96162189-96162239	PANC-1	pancreas:	n/a
12	chr10:96162189-96162239	HIPEpiC	eye:	n/a
13	chr10:96162189-96162239	HEEpiC	esophagus:	n/a
14	chr10:96162189-96162239	ProgFib	skin:	n/a
15	chr10:96162189-96162239	LNCaP	prostate:	n/a
16	chr10:96162189-96162239	HCM	heart:	n/a
17	chr10:96162189-96162239	HRPEpiC	eye:	n/a
18	chr10:96162189-96162239	HepG2	liver:	n/a
19	chr10:96162189-96162239	CMK	blood:	n/a
20	chr10:96162189-96162239	Hela-S3	cervix:	n/a
21	chr10:96162189-96162239	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:96162189-96162239	NB4	blood:	n/a
23	chr10:96162189-96162239	T-47D	breast:	n/a
24	chr10:96162189-96162239	SK-N-SH_RA	brain:	n/a
25	chr10:96162189-96162239	PFSK-1	brain:	n/a
26	chr10:96162189-96162239	GM19239	blood:	n/a
27	chr10:96162189-96162239	HCF	heart:	n/a
28	chr10:96162189-96162239	H1-hESC	embryonic stem cell:	embryo
29	chr10:96162189-96162239	Jurkat	blood:	n/a
30	chr10:96162189-96162239	MCF-7	breast:	n/a
31	chr10:96162189-96162239	ECC-1	luminal epithelium:	n/a
32	chr10:96162189-96162239	HCT-116	colon:	n/a
33	chr10:96162189-96162239	AG10803	skin:	n/a
34	chr10:96162189-96162239	MCF10A-Er-Src	breast:	n/a
35	chr10:96162189-96162239	HRE	kidney:	n/a
36	chr10:96162189-96162239	SAEC	small airway:	n/a
37	chr10:96162189-96162239	Hepatocyte	liver:	n/a
38	chr10:96162189-96162239	HCPEpiC	choroid plexus:	n/a
39	chr10:96162189-96162239	A549	lung:	n/a
40	chr10:96162189-96162239	AG09309	skin:	n/a
41	chr10:96162189-96162239	GM12891	blood:	n/a
42	chr10:96162189-96162239	NH-A	brain:	n/a
43	chr10:96162189-96162239	AG09319	gingival:	n/a
44	chr10:96162189-96162239	NHBE	bronchial:	n/a
45	chr10:96162189-96162239	ovcar-3	ovarian:	n/a
46	chr10:96162189-96162239	SK-N-MC	brain:	n/a
47	chr10:96162189-96162239	IMR90	lung:	fetal
48	chr10:96162189-96162239	HEK293	kidney:	embryo
49	chr10:96162189-96162239	U87	brain:	n/a
50	chr10:96162189-96162239	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:96120934..96124258-chr10:96160439..96165957,6	MCF-7	breast:
2	chr10:96121730..96122942-chr10:96161863..96162614,3	Hela-S3	cervix:
3	chr10:96121306..96124383-chr10:96159927..96163798,5	MCF-7	breast:
4	chr10:96160448..96164371-chr10:96304138..96307716,8	MCF-7	breast:
5	chr10:96162121..96162677-chr5:154317419..154318125,2	HCT-116	colon:
6	chr10:96122660..96124273-chr10:96159058..96162494,4	K562	blood:
7	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:
8	chr10:96162017..96163519-chr15:65596803..65598979,2	MCF-7	breast:
9	chr10:96161889..96162635-chr9:88897007..88897760,2	Hela-S3	cervix:
10	chr10:96159758..96162488-chr10:96305268..96307065,2	K562	blood:

Variant related genes	Relation type
TBC1D12	TF binding region
TBC1D12	CpG island
ENSG00000119969	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000135070	Chromatin interaction
ENSG00000173145	Chromatin interaction
ENSG00000082516	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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3398177	chr10:96139011-96169931	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3411992	chr10:96139011-96172041	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv551947	chr10:96154267-96162969	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv551948	chr10:96154267-96163020	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3359689	chr10:96161587-96164135	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3372349	chr10:96161987-96164835	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96161200-96162400	Active TSS	Fetal Brain Male	brain
2	chr10:96161200-96164000	Active TSS	Placenta	Placenta
3	chr10:96161600-96163800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr10:96161600-96164200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:96161600-96164600	Active TSS	Rectal Smooth Muscle	rectum
6	chr10:96161600-96164800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:96161600-96164800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:96161600-96164800	Active TSS	Stomach Smooth Muscle	stomach
9	chr10:96161600-96164800	Active TSS	Hela-S3	cervix
10	chr10:96161600-96165000	Active TSS	Brain Anterior Caudate	brain
11	chr10:96161600-96165000	Active TSS	Fetal Intestine Large	intestine
12	chr10:96161600-96165400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:96161800-96162400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:96161800-96162600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:96161800-96162600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:96161800-96162600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:96161800-96162600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:96161800-96162800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:96161800-96162800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr10:96161800-96162800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr10:96161800-96162800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:96161800-96163000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:96161800-96163400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:96161800-96163400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr10:96161800-96163600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr10:96161800-96163600	Active TSS	Liver	Liver
27	chr10:96161800-96163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr10:96161800-96163800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:96161800-96163800	Active TSS	Esophagus	oesophagus
30	chr10:96161800-96163800	Active TSS	Fetal Kidney	kidney
31	chr10:96161800-96163800	Active TSS	Gastric	stomach
32	chr10:96161800-96164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:96161800-96164000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr10:96161800-96164000	Active TSS	Fetal Muscle Trunk	muscle
35	chr10:96161800-96164000	Active TSS	Fetal Stomach	stomach
36	chr10:96161800-96164000	Active TSS	Left Ventricle	heart
37	chr10:96161800-96164000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr10:96161800-96164000	Bivalent/Poised TSS	Thymus	Thymus
39	chr10:96161800-96164000	Active TSS	HUVEC	blood vessel
40	chr10:96161800-96164200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:96161800-96164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:96161800-96164200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:96161800-96164200	Active TSS	Colon Smooth Muscle	Colon
44	chr10:96161800-96164200	Active TSS	Ovary	ovary
45	chr10:96161800-96164200	Active TSS	Psoas Muscle	Psoas
46	chr10:96161800-96164200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:96161800-96164400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:96161800-96164400	Active TSS	Fetal Lung	lung
49	chr10:96161800-96164600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:96161800-96164600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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