Variant report

Variant	rs7039385
Chromosome Location	chr9:93405628-93405629
allele	C/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	CTCF	chr9:93405195-93405670	T-47D	breast:	n/a	chr9:93405196-93405209
2	RAD21	chr9:93404973-93405676	H1-hESC	embryonic stem cell:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
3	SMC3	chr9:93404782-93405782	SK-N-SH	brain:	n/a	chr9:93405418-93405432
4	CTCF	chr9:93405480-93405630	A549	lung:	n/a	n/a
5	RAD21	chr9:93405206-93405639	A549	lung:	n/a	chr9:93405268-93405281
6	CTCF	chr9:93404541-93405878	A549	lung:	n/a	chr9:93405196-93405209 chr9:93405123-93405136 chr9:93405113-93405126
7	TCF12	chr9:93404840-93405654	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr9:93405119-93405667	MCF-7	breast:	n/a	chr9:93405196-93405209 chr9:93405123-93405136
9	MAX	chr9:93404913-93405634	A549	lung:	n/a	n/a
10	RAD21	chr9:93404856-93405714	MCF-7	breast:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
11	NFIC	chr9:93404895-93405649	ECC-1	luminal epithelium:	n/a	n/a
12	MXI1	chr9:93404172-93405901	SK-N-SH	brain:	n/a	n/a
13	EP300	chr9:93404838-93405703	ECC-1	luminal epithelium:	n/a	chr9:93405117-93405133 chr9:93405245-93405261
14	RAD21	chr9:93405014-93405724	MCF-7	breast:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
15	REST	chr9:93403253-93406078	H1-neurons	neurons:	n/a	chr9:93405362-93405375
16	MAX	chr9:93404796-93405664	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr9:93404862-93405648	ECC-1	luminal epithelium:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
18	RFX5	chr9:93404641-93406175	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr9:93405180-93405668	MCF-7	breast:	n/a	chr9:93405196-93405209
20	RAD21	chr9:93404147-93406009	SK-N-SH	brain:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
21	RAD21	chr9:93404977-93405654	A549	lung:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
22	POLR2A	chr9:93404070-93405790	H1-neurons	neurons:	n/a	n/a
23	CTCF	chr9:93404739-93405800	SK-N-SH	brain:	n/a	chr9:93405196-93405209 chr9:93405123-93405136 chr9:93405113-93405126
24	POLR2A	chr9:93404816-93405630	H1-neurons	neurons:	n/a	n/a
25	NRF1	chr9:93404854-93405715	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr9:93405126-93405650	ECC-1	luminal epithelium:	n/a	chr9:93405268-93405281
27	TCF12	chr9:93404851-93405630	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
DIRAS2	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2231775	1.00[AMR][1000 genomes]
rs2231776	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv482757	chr9:93356095-93543903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93402800-93406000	Active TSS	Brain Anterior Caudate	brain
2	chr9:93403200-93406000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:93403800-93405800	Active TSS	Brain Germinal Matrix	brain
4	chr9:93404000-93405800	Active TSS	Brain Substantia Nigra	brain
5	chr9:93404200-93405800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:93404200-93405800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr9:93404400-93405800	Active TSS	Fetal Brain Female	brain
8	chr9:93404600-93405800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr9:93404600-93405800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr9:93404800-93405800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:93404800-93405800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:93405000-93405800	Active TSS	Fetal Kidney	kidney
13	chr9:93405200-93405800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:93405400-93405800	Bivalent Enhancer	HMEC	breast
15	chr9:93405400-93406000	Enhancers	Liver	Liver
16	chr9:93405600-93405800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:93405600-93405800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr9:93405600-93405800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:93405600-93405800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr9:93405600-93405800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:93405600-93405800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:93405600-93405800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr9:93405600-93405800	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr9:93405600-93405800	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr9:93405600-93405800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr9:93405600-93405800	Flanking Active TSS	Fetal Brain Male	brain
27	chr9:93405600-93405800	Enhancers	Fetal Intestine Large	intestine
28	chr9:93405600-93405800	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr9:93405600-93405800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr9:93405600-93405800	Bivalent Enhancer	Thymus	Thymus
31	chr9:93405600-93405800	Bivalent/Poised TSS	A549	lung
32	chr9:93405600-93406000	Enhancers	Brain Cingulate Gyrus	brain
33	chr9:93405600-93406000	Enhancers	Duodenum Mucosa	Duodenum

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