Variant report

Variant	rs2793447
Chromosome Location	chr6:24360149-24360150
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	BHLHE40	chr6:24359895-24360519	GM12878	blood:	n/a	chr6:24360100-24360121
2	RELA	chr6:24359939-24360527	GM19099	blood:	n/a	n/a
3	EGR1	chr6:24360042-24360516	ECC-1	luminal epithelium:	n/a	n/a
4	MAZ	chr6:24359923-24360250	K562	blood:	n/a	chr6:24360097-24360113
5	MTA3	chr6:24359830-24360524	GM12878	blood:	n/a	n/a
6	RAD21	chr6:24359924-24360229	GM12878	blood:	n/a	chr6:24360167-24360180
7	POLR2A	chr6:24360100-24360662	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr6:24359852-24360435	GM12892	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
9	CTCF	chr6:24360000-24360150	GM12871	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
10	TCF12	chr6:24359968-24360493	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:24360020-24360170	BE2_C	brain:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
12	CTCF	chr6:24360000-24360150	GM12869	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
13	JUND	chr6:24359913-24360516	A549	lung:	n/a	chr6:24360150-24360159
14	RUNX3	chr6:24359885-24360546	GM12878	blood:	n/a	n/a
15	EBF1	chr6:24359962-24360419	GM12878	blood:	n/a	n/a
16	USF1	chr6:24359821-24360731	ECC-1	luminal epithelium:	n/a	chr6:24360100-24360121
17	REST	chr6:24359958-24360717	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr6:24360000-24360150	GM12866	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
19	POLR2A	chr6:24359899-24360606	SK-N-MC	brain:	n/a	n/a
20	CTCF	chr6:24360000-24360150	SK-N-SH_RA	brain:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
21	ZBTB7A	chr6:24359832-24360533	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr6:24360000-24360150	HEK293	kidney:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
23	CTCF	chr6:24360000-24360150	HCPEpiC	choroid plexus:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
24	SP4	chr6:24359920-24360234	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr6:24359948-24360387	GM12878	blood:	n/a	chr6:24360097-24360113
26	ZBTB7A	chr6:24359816-24360182	K562	blood:	n/a	n/a
27	HDAC2	chr6:24359835-24360628	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:24359964-24360231	Spleen_OC	spleen:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
29	CTCF	chr6:24359852-24360306	GM19238	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
30	CTCF	chr6:24359932-24360226	K562	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
31	PAX5	chr6:24359938-24360530	GM12878	blood:	n/a	n/a
32	NR3C1	chr6:24360020-24360461	A549	lung:	n/a	n/a
33	MYC	chr6:24359950-24360609	MCF-7	breast:	n/a	chr6:24360508-24360519 chr6:24360097-24360113 chr6:24360381-24360390
34	RAD21	chr6:24359797-24360360	A549	lung:	n/a	chr6:24360167-24360180
35	CTCF	chr6:24360020-24360170	WI-38	lung:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
36	HMGN3	chr6:24359944-24360373	K562	blood:	n/a	n/a
37	EGR1	chr6:24359965-24360689	HCT-116	colon:	n/a	n/a
38	RAD21	chr6:24359915-24360232	SK-N-SH_RA	brain:	n/a	chr6:24360167-24360180
39	CTCF	chr6:24359914-24360157	K562	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
40	CTCF	chr6:24359960-24360246	GM13977	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
41	RAD21	chr6:24359779-24360496	H1-hESC	embryonic stem cell:	n/a	chr6:24360167-24360180
42	CREB1	chr6:24359921-24360628	A549	lung:	n/a	n/a
43	USF1	chr6:24359913-24360338	SK-N-SH_RA	brain:	n/a	chr6:24360100-24360121
44	CTCF	chr6:24359968-24360227	GM10248	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
45	USF1	chr6:24359876-24360245	H1-hESC	embryonic stem cell:	n/a	chr6:24360100-24360121
46	CTCF	chr6:24360020-24360170	HCM	heart:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
47	CTCF	chr6:24360060-24360210	HMEC	breast:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
48	EGR1	chr6:24359937-24360482	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:24359874-24360208	ECC-1	luminal epithelium:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091
50	CTCF	chr6:24360000-24360150	GM12801	blood:	n/a	chr6:24360076-24360089 chr6:24360074-24360092 chr6:24360076-24360089 chr6:24360075-24360091

No.	Distal block	Cell Line	Cell type
1	chr6:24341482..24343826-chr6:24359222..24360846,2	MCF-7	breast:
2	chr6:24283175..24284815-chr6:24359561..24361041,12	MCF-7	breast:
3	chr6:24281775..24284260-chr6:24359000..24360636,2	MCF-7	breast:
4	chr6:24282994..24284064-chr6:24359605..24360545,4	MCF-7	breast:

Variant related genes	Relation type
DCDC2	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1277349	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3426241	chr6:24358398-24360946	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3336385	chr6:24358423-24360671	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr6:24358600-24360200	Weak transcription	Lung	lung
2	chr6:24358800-24360200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:24358800-24360200	Weak transcription	Stomach Mucosa	stomach
4	chr6:24359000-24362800	Weak transcription	HepG2	liver
5	chr6:24359800-24360200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:24359800-24360200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:24359800-24360200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr6:24359800-24360200	Enhancers	Spleen	Spleen
9	chr6:24359800-24360200	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:24359800-24360400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:24359800-24360400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:24359800-24360400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:24359800-24360400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:24359800-24360400	Active TSS	Brain Cingulate Gyrus	brain
15	chr6:24359800-24360400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:24359800-24360400	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:24359800-24360400	Active TSS	Right Atrium	heart
18	chr6:24359800-24360600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:24359800-24360600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:24359800-24360600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:24359800-24360600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:24359800-24360600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:24359800-24360600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:24359800-24360600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:24359800-24360600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:24359800-24360600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:24359800-24360600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:24359800-24360600	Active TSS	Brain Angular Gyrus	brain
29	chr6:24359800-24360600	Active TSS	Brain Anterior Caudate	brain
30	chr6:24359800-24360600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:24359800-24360600	Active TSS	Fetal Intestine Small	intestine
32	chr6:24359800-24360600	Active TSS	Fetal Kidney	kidney
33	chr6:24359800-24360600	Active TSS	A549	lung
34	chr6:24359800-24360800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:24359800-24360800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:24359800-24360800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:24359800-24360800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:24359800-24360800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:24359800-24360800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:24359800-24360800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:24359800-24360800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:24359800-24360800	Active TSS	Fetal Brain Female	brain
43	chr6:24359800-24360800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:24359800-24360800	Active TSS	HSMM	muscle
45	chr6:24359800-24360800	Active TSS	NHLF	lung
46	chr6:24359800-24361000	Active TSS	NHEK	skin
47	chr6:24359800-24361000	Active TSS	Osteobl	bone
48	chr6:24360000-24360200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:24360000-24360200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:24360000-24360200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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