Variant report

Variant	rs2577364
Chromosome Location	chr10:118033400-118033401
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	MAZ	chr10:118031041-118033880	IMR90	lung:	n/a	chr10:118032586-118032596 chr10:118033682-118033691 chr10:118033306-118033315 chr10:118032757-118032767
2	MYC	chr10:118033343-118033456	MCF-7	breast:	n/a	n/a
3	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
4	BACH1	chr10:118033184-118033509	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr10:118031480-118034385	A549	lung:	n/a	chr10:118032586-118032596 chr10:118034183-118034199 chr10:118033682-118033691 chr10:118033306-118033315 chr10:118032757-118032767
6	HA-E2F1	chr10:118031428-118033422	MCF-7	breast:	n/a	chr10:118031794-118031808 chr10:118032753-118032765 chr10:118032756-118032765
7	POLR2A	chr10:118031272-118034347	MCF-7	breast:	n/a	n/a
8	CHD1	chr10:118033394-118033487	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:118032664-118033429	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr10:118033338-118033453	Gliobla	brain:	n/a	n/a
11	KAP1	chr10:118033117-118033415	U2OS	brain:	n/a	n/a
12	POLR2A	chr10:118022229-118034776	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:118032845-118033595	H1-neurons	neurons:	n/a	n/a
14	ZNF263	chr10:118031708-118034525	HEK293-T-REx	kidney:	n/a	chr10:118034011-118034020 chr10:118032764-118032773 chr10:118034005-118034026 chr10:118034014-118034023
15	POLR2A	chr10:118032505-118033854	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr10:118032796-118034270	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr10:118029149-118034735	MCF-7	breast:	n/a	n/a
18	MYC	chr10:118033370-118033492	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:118033360-118033510	SK-N-SH_RA	brain:	n/a	n/a
20	YY1	chr10:118032466-118033549	H1-hESC	embryonic stem cell:	n/a	chr10:118032473-118032487 chr10:118032756-118032765 chr10:118033132-118033146
21	MAX	chr10:118032824-118033520	H1-hESC	embryonic stem cell:	n/a	chr10:118033306-118033315
22	KAP1	chr10:118032842-118033429	HEK293	kidney:	n/a	n/a
23	MYC	chr10:118033317-118033450	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:118033370-118033420	A549	lung:	n/a
2	chr10:118033370-118033420	GM12892	blood:	n/a
3	chr10:118033370-118033420	T-47D	breast:	n/a
4	chr10:118033370-118033420	HCF	heart:	n/a
5	chr10:118033370-118033420	GM12891	blood:	n/a
6	chr10:118033370-118033420	NHDF-neo	bronchial:	n/a
7	chr10:118033370-118033420	PANC-1	pancreas:	n/a
8	chr10:118033370-118033420	U87	brain:	n/a
9	chr10:118033370-118033420	HRPEpiC	eye:	n/a
10	chr10:118033370-118033420	ProgFib	skin:	n/a
11	chr10:118033370-118033420	HEK293	kidney:	embryo
12	chr10:118033370-118033420	AG09319	gingival:	n/a
13	chr10:118033370-118033420	HCT-116	colon:	n/a
14	chr10:118033370-118033420	BE2_C	brain:	n/a
15	chr10:118033370-118033420	NH-A	brain:	n/a
16	chr10:118033370-118033420	SKMC	muscle:	n/a
17	chr10:118033370-118033420	Hela-S3	cervix:	n/a
18	chr10:118033370-118033420	HAEpiC	amniotic membrane:	n/a
19	chr10:118033370-118033420	LNCaP	prostate:	n/a
20	chr10:118033370-118033420	NHBE	bronchial:	n/a
21	chr10:118033370-118033420	HUVEC	blood vessel:	n/a
22	chr10:118033370-118033420	AG10803	skin:	n/a
23	chr10:118033370-118033420	HRE	kidney:	n/a
24	chr10:118033370-118033420	HMEC	breast:	n/a
25	chr10:118033370-118033420	K562	blood:	n/a
26	chr10:118033370-118033420	HRCEpiC	kidney:	n/a
27	chr10:118033370-118033420	GM19239	blood:	n/a
28	chr10:118033370-118033420	PrEC	prostate:	n/a
29	chr10:118033370-118033420	AG09309	skin:	n/a
30	chr10:118033370-118033420	MCF10A-Er-Src	breast:	n/a
31	chr10:118033370-118033420	SK-N-SH	brain:	n/a
32	chr10:118033370-118033420	PFSK-1	brain:	n/a
33	chr10:118033370-118033420	ovcar-3	ovarian:	n/a
34	chr10:118033370-118033420	MCF-7	breast:	n/a
35	chr10:118033370-118033420	Caco-2	colon:	n/a
36	chr10:118033370-118033420	RPTEC	kidney:	n/a
37	chr10:118033370-118033420	Hepatocyte	liver:	n/a
38	chr10:118033370-118033420	SAEC	small airway:	n/a
39	chr10:118033370-118033420	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:118033370-118033420	AoSMC	blood vessel:	n/a
41	chr10:118033370-118033420	SK-N-MC	brain:	n/a
42	chr10:118033370-118033420	HCM	heart:	n/a
43	chr10:118033370-118033420	H1-hESC	embryonic stem cell:	embryo
44	chr10:118033370-118033420	NB4	blood:	n/a
45	chr10:118033370-118033420	IMR90	lung:	fetal
46	chr10:118033370-118033420	SK-N-SH_RA	brain:	n/a
47	chr10:118033370-118033420	CMK	blood:	n/a
48	chr10:118033370-118033420	HCPEpiC	choroid plexus:	n/a
49	chr10:118033370-118033420	HNPCEpiC	eye:	n/a
50	chr10:118033370-118033420	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:117858148..117861915-chr10:118033235..118035636,3	MCF-7	breast:
2	chr10:117851031..117852800-chr10:118033043..118034663,2	MCF-7	breast:
3	chr10:117465313..117467973-chr10:118033324..118035057,2	MCF-7	breast:

Variant related genes	Relation type
GFRA1	TF binding region
GFRA1	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2532690	1.00[AMR][1000 genomes]
rs2532691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2532693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2532694	1.00[AMR][1000 genomes]
rs2532695	1.00[AMR][1000 genomes]
rs2577353	1.00[AMR][1000 genomes]
rs2577359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4285797	1.00[AMR][1000 genomes]
rs4309072	1.00[AMR][1000 genomes]
rs4333937	1.00[AMR][1000 genomes]
rs4341452	1.00[AMR][1000 genomes]
rs4421670	1.00[AMR][1000 genomes]
rs4525139	1.00[AMR][1000 genomes]
rs4525140	1.00[AMR][1000 genomes]
rs4579854	1.00[AMR][1000 genomes]
rs7079449	1.00[AMR][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:120 , 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	chr10:118030000-118034200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:118030000-118034400	Active TSS	Rectal Smooth Muscle	rectum
4	chr10:118030000-118034600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr10:118030200-118033800	Active TSS	HSMM	muscle
6	chr10:118030200-118033800	Active TSS	HSMMtube	muscle
7	chr10:118030200-118034000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr10:118030200-118034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr10:118030200-118034200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:118030200-118034400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:118030200-118034400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr10:118030200-118034400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:118030200-118034400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr10:118030200-118034600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr10:118030400-118033400	Active TSS	Brain Angular Gyrus	brain
16	chr10:118030400-118033800	Bivalent/Poised TSS	Left Ventricle	heart
17	chr10:118030400-118034200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:118030400-118034200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr10:118030400-118034200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:118030400-118034200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:118030400-118034200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:118030400-118034400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:118030400-118034600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:118030600-118034000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr10:118030600-118034200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:118030600-118034200	Active TSS	Ovary	ovary
27	chr10:118030600-118034400	Active TSS	Right Atrium	heart
28	chr10:118030600-118034600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr10:118030800-118033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr10:118030800-118034000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr10:118030800-118034200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:118030800-118034200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:118030800-118034200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:118030800-118034200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:118030800-118034200	Bivalent/Poised TSS	Thymus	Thymus
36	chr10:118030800-118034400	Active TSS	Aorta	Aorta
37	chr10:118030800-118034400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr10:118031000-118033400	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr10:118031000-118034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr10:118031000-118034200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:118031000-118034400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:118031000-118034400	Bivalent/Poised TSS	A549	lung
43	chr10:118031000-118034600	Active TSS	Brain Anterior Caudate	brain
44	chr10:118031200-118033400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:118031200-118033400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr10:118031200-118033600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr10:118031200-118033600	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr10:118031200-118034000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr10:118031400-118033400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr10:118031400-118033600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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