Variant report

Variant	rs2577362
Chromosome Location	chr10:118032445-118032446
allele	A/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	SIN3AK20	chr10:118031328-118032503	MCF-7	breast:	n/a	n/a
2	CTCF	chr10:118032400-118032550	SAEC	small airway:	n/a	n/a
3	MAZ	chr10:118031041-118033880	IMR90	lung:	n/a	chr10:118032586-118032596 chr10:118033682-118033691 chr10:118033306-118033315 chr10:118032757-118032767
4	MAX	chr10:118031494-118032523	A549	lung:	n/a	n/a
5	SIN3A	chr10:118030376-118033421	H1-hESC	embryonic stem cell:	n/a	chr10:118033014-118033023 chr10:118033126-118033139 chr10:118033136-118033145 chr10:118030632-118030643 chr10:118033006-118033017
6	CTCF	chr10:118032440-118032590	AG09309	skin:	n/a	n/a
7	MAX	chr10:118031480-118034385	A549	lung:	n/a	chr10:118032586-118032596 chr10:118034183-118034199 chr10:118033682-118033691 chr10:118033306-118033315 chr10:118032757-118032767
8	CTCF	chr10:118032380-118032530	GM12864	blood:	n/a	n/a
9	POLR2A	chr10:118031413-118032774	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:118032387-118032600	H1-hESC	embryonic stem cell:	n/a	n/a
11	HA-E2F1	chr10:118031428-118033422	MCF-7	breast:	n/a	chr10:118031794-118031808 chr10:118032753-118032765 chr10:118032756-118032765
12	POLR2A	chr10:118031272-118034347	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:118032400-118032550	GM12870	blood:	n/a	n/a
14	CTCF	chr10:118032380-118032530	HFF	foreskin:	n/a	n/a
15	CTCF	chr10:118032400-118032550	GM12875	blood:	n/a	n/a
16	POLR2A	chr10:118022229-118034776	MCF-7	breast:	n/a	n/a
17	ZNF263	chr10:118031708-118034525	HEK293-T-REx	kidney:	n/a	chr10:118034011-118034020 chr10:118032764-118032773 chr10:118034005-118034026 chr10:118034014-118034023
18	CTCF	chr10:118032320-118032470	GM12866	blood:	n/a	n/a
19	SIN3AK20	chr10:118029149-118034735	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:118032400-118032550	GM12866	blood:	n/a	n/a
21	FOXA2	chr10:118032384-118033022	A549	lung:	n/a	chr10:118032715-118032727 chr10:118032719-118032731
22	CTCF	chr10:118032440-118032590	NHEK	skin:	n/a	n/a
23	FOXP2	chr10:118032051-118032542	PFSK-1	brain:	n/a	chr10:118032055-118032067
24	ZNF143	chr10:118031956-118032959	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr10:118031674-118032463	IMR90	lung:	n/a	chr10:118032302-118032315
26	CTBP2	chr10:118030332-118033128	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:118032440-118032590	HAc	cerebellar:	n/a	n/a
28	TAF1	chr10:118031334-118032487	MCF-7	breast:	n/a	n/a
29	CHD1	chr10:118031968-118033015	H1-hESC	embryonic stem cell:	n/a	chr10:118032701-118032711
30	TCF12	chr10:118032371-118032845	A549	lung:	n/a	n/a
31	CTCF	chr10:118032440-118032590	RPTEC	kidney:	n/a	n/a
32	RAD21	chr10:118032062-118032781	H1-hESC	embryonic stem cell:	n/a	chr10:118032302-118032315

Variant related genes	Relation type
GFRA1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11816383	0.96[EUR][1000 genomes]
rs12414695	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12416567	0.96[EUR][1000 genomes]
rs1362216	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419876	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17094490	0.88[EUR][1000 genomes]
rs2074986	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2438177	0.92[EUR][1000 genomes]
rs2532688	0.92[EUR][1000 genomes]
rs35997739	0.88[EUR][1000 genomes]
rs3740573	0.92[EUR][1000 genomes]
rs4320877	0.96[EUR][1000 genomes]
rs61092077	0.96[EUR][1000 genomes]
rs7092496	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73371096	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73373010	0.92[EUR][1000 genomes]
rs73373021	0.90[EUR][1000 genomes]
rs73373031	0.88[EUR][1000 genomes]
rs8192661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	esv3449389	chr10:117806874-118102404	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832000	chr10:117944492-118116253	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3332511	chr10:118030012-118035110	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118029600-118034200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:118029800-118032800	Active TSS	Fetal Kidney	kidney
3	chr10:118030000-118034200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:118030000-118034400	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:118030000-118034600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr10:118030200-118032600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:118030200-118033800	Active TSS	HSMM	muscle
8	chr10:118030200-118033800	Active TSS	HSMMtube	muscle
9	chr10:118030200-118034000	Active TSS	Muscle Satellite Cultured Cells	--
10	chr10:118030200-118034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:118030200-118034200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:118030200-118034400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr10:118030200-118034400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr10:118030200-118034400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:118030200-118034400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr10:118030200-118034600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr10:118030400-118032800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:118030400-118033200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr10:118030400-118033400	Active TSS	Brain Angular Gyrus	brain
20	chr10:118030400-118033800	Bivalent/Poised TSS	Left Ventricle	heart
21	chr10:118030400-118034200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:118030400-118034200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr10:118030400-118034200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:118030400-118034200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:118030400-118034200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:118030400-118034400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:118030400-118034600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:118030600-118032600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:118030600-118033200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:118030600-118034000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr10:118030600-118034200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:118030600-118034200	Active TSS	Ovary	ovary
33	chr10:118030600-118034400	Active TSS	Right Atrium	heart
34	chr10:118030600-118034600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr10:118030800-118032600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:118030800-118033000	Bivalent/Poised TSS	NH-A	brain
37	chr10:118030800-118033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr10:118030800-118034000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr10:118030800-118034200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:118030800-118034200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:118030800-118034200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:118030800-118034200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:118030800-118034200	Bivalent/Poised TSS	Thymus	Thymus
44	chr10:118030800-118034400	Active TSS	Aorta	Aorta
45	chr10:118030800-118034400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr10:118031000-118032800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr10:118031000-118033000	Active TSS	Psoas Muscle	Psoas
48	chr10:118031000-118033000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr10:118031000-118033400	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr10:118031000-118034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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