Variant report

Variant	rs553605377
Chromosome Location	chr9:97136494-97136495
allele	G/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	chr9:97136410-97137196	A549	lung:	n/a	chr9:97136801-97136810 chr9:97136796-97136805 chr9:97136761-97136770
2	RUNX3	chr9:97136311-97137064	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:97136387-97137026	HepG2	liver:	n/a	n/a
4	POU2F2	chr9:97136466-97136707	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:97136346-97137069	HepG2	liver:	n/a	n/a
6	MAZ	chr9:97136375-97137011	K562	blood:	n/a	n/a
7	TAF1	chr9:97136379-97137095	GM12891	blood:	n/a	n/a
8	UBTF	chr9:97136433-97137261	K562	blood:	n/a	n/a
9	FOSL2	chr9:97136405-97136921	HepG2	liver:	n/a	chr9:97136801-97136810 chr9:97136796-97136805 chr9:97136761-97136770
10	SP1	chr9:97136451-97136881	K562	blood:	n/a	chr9:97136802-97136811 chr9:97136801-97136813 chr9:97136697-97136707 chr9:97136762-97136771 chr9:97136796-97136808 chr9:97136798-97136807 chr9:97136793-97136807 chr9:97136763-97136772 chr9:97136761-97136773 chr9:97136831-97136840 chr9:97136797-97136806 chr9:97136761-97136773 chr9:97136555-97136564 chr9:97136697-97136707 chr9:97136803-97136812 chr9:97136763-97136772 chr9:97136803-97136812 chr9:97136801-97136813 chr9:97136554-97136563 chr9:97136796-97136808 chr9:97136758-97136772
11	POLR2A	chr9:97136326-97137100	GM18951	blood:	n/a	n/a
12	POLR2A	chr9:97136455-97136645	HepG2	liver:	n/a	n/a
13	TCF12	chr9:97136446-97136761	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:97136320-97136666	U87	brain:	n/a	n/a
15	SP1	chr9:97136415-97136913	H1-hESC	embryonic stem cell:	n/a	chr9:97136802-97136811 chr9:97136801-97136813 chr9:97136697-97136707 chr9:97136762-97136771 chr9:97136796-97136808 chr9:97136798-97136807 chr9:97136793-97136807 chr9:97136763-97136772 chr9:97136761-97136773 chr9:97136831-97136840 chr9:97136797-97136806 chr9:97136761-97136773 chr9:97136555-97136564 chr9:97136697-97136707 chr9:97136803-97136812 chr9:97136763-97136772 chr9:97136803-97136812 chr9:97136801-97136813 chr9:97136554-97136563 chr9:97136796-97136808 chr9:97136758-97136772
16	MAZ	chr9:97136264-97137173	IMR90	lung:	n/a	n/a
17	POLR2A	chr9:97136418-97137350	A549	lung:	n/a	n/a
18	POLR2A	chr9:97136450-97136665	HUVEC	blood vessel:	n/a	n/a
19	E2F4	chr9:97136421-97136944	MCF10A-Er-Src	breast:	n/a	chr9:97136779-97136789 chr9:97136780-97136790 chr9:97136797-97136806 chr9:97136630-97136642
20	MAZ	chr9:97136474-97136904	Hela-S3	cervix:	n/a	n/a
21	SIX5	chr9:97136452-97136770	K562	blood:	n/a	n/a
22	MXI1	chr9:97136478-97136619	K562	blood:	n/a	n/a
23	POLR2A	chr9:97136332-97137856	ProgFib	skin:	n/a	n/a
24	POLR2A	chr9:97136385-97137033	IMR90	lung:	n/a	n/a
25	POU2F2	chr9:97136411-97137233	GM12891	blood:	n/a	chr9:97136797-97136809
26	RUNX3	chr9:97136408-97136656	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:97136367-97137079	GM18505	blood:	n/a	n/a
28	HCFC1	chr9:97136409-97136904	K562	blood:	n/a	n/a
29	GABPA	chr9:97136427-97137261	HepG2	liver:	n/a	chr9:97137213-97137227 chr9:97137218-97137227 chr9:97137216-97137225
30	ELF1	chr9:97136423-97136974	GM12878	blood:	n/a	n/a
31	NR2F2	chr9:97136454-97136950	K562	blood:	n/a	n/a
32	HEY1	chr9:97136368-97136990	HepG2	liver:	n/a	chr9:97136834-97136849 chr9:97136778-97136793
33	POLR2A	chr9:97136425-97137016	K562	blood:	n/a	n/a
34	POLR2A	chr9:97136461-97137301	A549	lung:	n/a	n/a
35	IRF4	chr9:97136435-97136746	GM12878	blood:	n/a	n/a
36	TAF1	chr9:97136408-97136656	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr9:97136305-97137053	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr9:97136423-97137871	PBDE	blood:	n/a	n/a
39	CBX3	chr9:97136369-97136913	K562	blood:	n/a	n/a
40	RCOR1	chr9:97136366-97136754	K562	blood:	n/a	n/a
41	IRF1	chr9:97136418-97136962	K562	blood:	n/a	chr9:97136796-97136810 chr9:97136761-97136775 chr9:97136801-97136815 chr9:97136696-97136710
42	POLR2A	chr9:97136405-97136993	Hela-S3	cervix:	n/a	n/a
43	JUND	chr9:97136452-97136987	HepG2	liver:	n/a	chr9:97136801-97136810 chr9:97136796-97136805 chr9:97136761-97136770
44	POLR2A	chr9:97136365-97137072	NB4	blood:	n/a	n/a
45	YY1	chr9:97136423-97137050	HepG2	liver:	n/a	chr9:97136765-97136779
46	JUND	chr9:97136468-97136724	HepG2	liver:	n/a	n/a
47	POU2F2	chr9:97136420-97136835	GM12878	blood:	n/a	chr9:97136797-97136809
48	EBF1	chr9:97136408-97137293	GM12878	blood:	n/a	n/a
49	BATF	chr9:97136440-97136776	GM12878	blood:	n/a	n/a
50	GABPA	chr9:97136411-97136961	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97135317..97137962-chr9:99774801..99776499,2	MCF-7	breast:

Variant related genes	Relation type
HIATL1	TF binding region
ENSG00000196312	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982323	chr9:97125305-97137721	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3409559	chr9:97135656-97138504	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr9:97136000-97137800	Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr9:97136000-97138000	Active TSS	Primary monocytes fromperipheralblood	blood
3	chr9:97136000-97138400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:97136200-97136600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr9:97136200-97136600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr9:97136200-97136600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr9:97136200-97136600	Active TSS	Fetal Brain Male	brain
8	chr9:97136200-97136600	Active TSS	Fetal Heart	heart
9	chr9:97136200-97136600	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr9:97136200-97137000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr9:97136200-97137000	Active TSS	Brain Substantia Nigra	brain
12	chr9:97136200-97137800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr9:97136200-97137800	Active TSS	Primary B cells from peripheral blood	blood
14	chr9:97136200-97137800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr9:97136200-97137800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:97136200-97137800	Active TSS	Brain Anterior Caudate	brain
17	chr9:97136200-97137800	Active TSS	Brain Hippocampus Middle	brain
18	chr9:97136200-97137800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:97136200-97137800	Active TSS	Colonic Mucosa	Colon
20	chr9:97136200-97137800	Active TSS	Placenta	Placenta
21	chr9:97136200-97137800	Active TSS	Ovary	ovary
22	chr9:97136200-97137800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr9:97136200-97138000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr9:97136200-97138000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr9:97136200-97138000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr9:97136200-97138000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:97136200-97138000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr9:97136200-97138000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr9:97136200-97138000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr9:97136200-97138000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr9:97136200-97138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr9:97136200-97138000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:97136200-97138000	Active TSS	Primary B cells from cord blood	blood
34	chr9:97136200-97138000	Active TSS	Primary T cells from cord blood	blood
35	chr9:97136200-97138000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:97136200-97138000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:97136200-97138000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:97136200-97138000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:97136200-97138000	Active TSS	Adipose Nuclei	Adipose
40	chr9:97136200-97138000	Active TSS	Liver	Liver
41	chr9:97136200-97138000	Active TSS	Brain Cingulate Gyrus	brain
42	chr9:97136200-97138000	Active TSS	Brain Germinal Matrix	brain
43	chr9:97136200-97138000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr9:97136200-97138000	Active TSS	Colon Smooth Muscle	Colon
45	chr9:97136200-97138000	Active TSS	Duodenum Mucosa	Duodenum
46	chr9:97136200-97138000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr9:97136200-97138000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr9:97136200-97138000	Active TSS	Fetal Brain Female	brain
49	chr9:97136200-97138000	Active TSS	Fetal Intestine Large	intestine
50	chr9:97136200-97138000	Active TSS	Fetal Intestine Small	intestine

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