Variant report

Variant	rs191398638
Chromosome Location	chr10:96162069-96162070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

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	MYC	chr10:96162066-96162165	HepG2	liver:	n/a	n/a
7	CTCF	chr10:96162060-96162143	K562	blood:	n/a	n/a
8	REST	chr10:96161755-96162536	A549	lung:	n/a	n/a
9	ELF1	chr10:96161936-96163708	GM12878	blood:	n/a	chr10:96162281-96162293
10	POLR2A	chr10:96161879-96163809	GM12892	blood:	n/a	n/a
11	YY1	chr10:96161911-96163527	HepG2	liver:	n/a	chr10:96162090-96162098 chr10:96162279-96162288 chr10:96162274-96162288 chr10:96162279-96162290
12	TAF1	chr10:96161940-96162440	GM12878	blood:	n/a	n/a
13	BACH1	chr10:96161959-96163255	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr10:96161939-96163674	HepG2	liver:	n/a	n/a
15	CTCF	chr10:96161958-96162158	K562	blood:	n/a	n/a
16	USF1	chr10:96161834-96162351	A549	lung:	n/a	chr10:96162269-96162285
17	CBX3	chr10:96161771-96162241	K562	blood:	n/a	n/a
18	USF1	chr10:96161989-96162297	K562	blood:	n/a	chr10:96162269-96162285
19	POLR2A	chr10:96162010-96162633	A549	lung:	n/a	n/a
20	SIN3AK20	chr10:96161730-96163900	PANC-1	pancreas:	n/a	n/a
21	GATA3	chr10:96161763-96162741	A549	lung:	n/a	n/a
22	CREB1	chr10:96161921-96163009	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:96161887-96162513	HUVEC	blood vessel:	n/a	n/a
24	TAF1	chr10:96162041-96162536	K562	blood:	n/a	n/a
25	SP2	chr10:96161820-96162326	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr10:96161992-96162241	HepG2	liver:	n/a	chr10:96162187-96162196 chr10:96162185-96162196 chr10:96162182-96162196
27	POLR2A	chr10:96161864-96163829	GM19099	blood:	n/a	n/a
28	TCF12	chr10:96162002-96162639	GM12878	blood:	n/a	n/a
29	BCLAF1	chr10:96161767-96162712	GM12878	blood:	n/a	chr10:96162279-96162292 chr10:96162275-96162288 chr10:96162345-96162358
30	POLR2A	chr10:96162001-96162135	SK-N-SH	brain:	n/a	n/a
31	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
32	CHD2	chr10:96162018-96162281	HepG2	liver:	n/a	n/a
33	MAX	chr10:96161781-96162738	MCF-7	breast:	n/a	n/a
34	YY1	chr10:96161919-96162210	GM12891	blood:	n/a	chr10:96162090-96162098
35	POLR2A	chr10:96161933-96162596	GM12878	blood:	n/a	n/a
36	MYC	chr10:96161939-96162774	MCF10A-Er-Src	breast:	n/a	n/a
37	CREB1	chr10:96161849-96162867	A549	lung:	n/a	n/a
38	TAF1	chr10:96161871-96162641	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr10:96161874-96163725	Hela-S3	cervix:	n/a	n/a
40	ATF1	chr10:96161937-96162267	K562	blood:	n/a	n/a
41	POLR2A	chr10:96161938-96162860	Gliobla	brain:	n/a	n/a
42	ELF1	chr10:96161957-96162224	HepG2	liver:	n/a	n/a
43	STAT3	chr10:96161872-96162130	GM12878	blood:	n/a	n/a
44	YY1	chr10:96161974-96162512	K562	blood:	n/a	chr10:96162090-96162098 chr10:96162279-96162288 chr10:96162274-96162288 chr10:96162279-96162290
45	POLR2A	chr10:96161982-96163121	MCF-7	breast:	n/a	n/a
46	FOS	chr10:96162062-96162182	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr10:96161962-96162289	MCF10A-Er-Src	breast:	n/a	n/a
48	MXI1	chr10:96161855-96163759	HepG2	liver:	n/a	n/a
49	YY1	chr10:96161975-96162242	HCT-116	colon:	n/a	chr10:96162090-96162098
50	ZBTB7A	chr10:96161932-96162588	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96162066-96162116	HAEpiC	amniotic membrane:	n/a
2	chr10:96162066-96162116	NH-A	brain:	n/a
3	chr10:96162066-96162116	Jurkat	blood:	n/a
4	chr10:96162066-96162116	ECC-1	luminal epithelium:	n/a
5	chr10:96162066-96162116	PFSK-1	brain:	n/a
6	chr10:96162066-96162116	HEK293	kidney:	embryo
7	chr10:96162066-96162116	ProgFib	skin:	n/a
8	chr10:96162066-96162116	HCF	heart:	n/a
9	chr10:96162066-96162116	HRE	kidney:	n/a
10	chr10:96162066-96162116	HMEC	breast:	n/a
11	chr10:96162066-96162116	NHDF-neo	bronchial:	n/a
12	chr10:96162066-96162116	AG09309	skin:	n/a
13	chr10:96162066-96162116	BE2_C	brain:	n/a
14	chr10:96162066-96162116	MCF10A-Er-Src	breast:	n/a
15	chr10:96162066-96162116	HL-60	blood:	n/a
16	chr10:96162066-96162116	AG04450	lung:	fetal
17	chr10:96162066-96162116	LNCaP	prostate:	n/a
18	chr10:96162066-96162116	GM19239	blood:	n/a
19	chr10:96162066-96162116	AG04449	skin:	fetal
20	chr10:96162066-96162116	HRCEpiC	kidney:	n/a
21	chr10:96162066-96162116	BJ	skin:	n/a
22	chr10:96162066-96162116	CMK	blood:	n/a
23	chr10:96162066-96162116	HCT-116	colon:	n/a
24	chr10:96162066-96162116	MCF-7	breast:	n/a
25	chr10:96162066-96162116	RPTEC	kidney:	n/a
26	chr10:96162066-96162116	IMR90	lung:	fetal
27	chr10:96162066-96162116	GM12892	blood:	n/a
28	chr10:96162066-96162116	HRPEpiC	eye:	n/a
29	chr10:96162066-96162116	GM12878	blood:	n/a
30	chr10:96162066-96162116	NB4	blood:	n/a
31	chr10:96162066-96162116	PrEC	prostate:	n/a
32	chr10:96162066-96162116	HNPCEpiC	eye:	n/a
33	chr10:96162066-96162116	HEEpiC	esophagus:	n/a
34	chr10:96162066-96162116	AG09319	gingival:	n/a
35	chr10:96162066-96162116	SAEC	small airway:	n/a
36	chr10:96162066-96162116	HIPEpiC	eye:	n/a
37	chr10:96162066-96162116	A549	lung:	n/a
38	chr10:96162066-96162116	GM12891	blood:	n/a
39	chr10:96162066-96162116	Hela-S3	cervix:	n/a
40	chr10:96162066-96162116	H1-hESC	embryonic stem cell:	embryo
41	chr10:96162066-96162116	AG10803	skin:	n/a
42	chr10:96162066-96162116	HCPEpiC	choroid plexus:	n/a
43	chr10:96162066-96162116	Hepatocyte	liver:	n/a
44	chr10:96162066-96162116	SKMC	muscle:	n/a
45	chr10:96162066-96162116	GM06990	blood:	n/a
46	chr10:96162066-96162116	K562	blood:	n/a
47	chr10:96162066-96162116	SK-N-SH	brain:	n/a
48	chr10:96162066-96162116	HepG2	liver:	n/a
49	chr10:96162066-96162116	U87	brain:	n/a
50	chr10:96162066-96162116	T-47D	breast:	n/a

(count:9 , 50 per page) page: 1

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	chr10:96122660..96124273-chr10:96159058..96162494,4	K562	blood:
6	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:
7	chr10:96162017..96163519-chr15:65596803..65598979,2	MCF-7	breast:
8	chr10:96161889..96162635-chr9:88897007..88897760,2	Hela-S3	cervix:
9	chr10:96159758..96162488-chr10:96305268..96307065,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D12	TF binding region
TBC1D12	CpG island
ENSG00000119969	Chromatin interaction
ENSG00000173145	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000135070	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:121 , 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	chr10:96161800-96162200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:96161800-96162200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:96161800-96162200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:96161800-96162200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:96161800-96162200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:96161800-96162200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr10:96161800-96162200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr10:96161800-96162200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
21	chr10:96161800-96162200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr10:96161800-96162200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:96161800-96162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:96161800-96162200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:96161800-96162200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr10:96161800-96162200	Active TSS	Brain Germinal Matrix	brain
27	chr10:96161800-96162200	Enhancers	Spleen	Spleen
28	chr10:96161800-96162200	Flanking Active TSS	K562	blood
29	chr10:96161800-96162400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:96161800-96162600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:96161800-96162600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:96161800-96162600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:96161800-96162600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:96161800-96162800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr10:96161800-96162800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr10:96161800-96162800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:96161800-96162800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:96161800-96163000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr10:96161800-96163400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:96161800-96163400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:96161800-96163600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr10:96161800-96163600	Active TSS	Liver	Liver
43	chr10:96161800-96163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr10:96161800-96163800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:96161800-96163800	Active TSS	Esophagus	oesophagus
46	chr10:96161800-96163800	Active TSS	Fetal Kidney	kidney
47	chr10:96161800-96163800	Active TSS	Gastric	stomach
48	chr10:96161800-96164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:96161800-96164000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr10:96161800-96164000	Active TSS	Fetal Muscle Trunk	muscle

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