Variant report

Variant	rs5937966
Chromosome Location	chrX:74376763-74376764
allele	C/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	CEBPB	chrX:74376439-74376891	K562	blood:	n/a	n/a
2	GATA2	chrX:74375896-74376800	SH-SY5Y	brain:	n/a	chrX:74376547-74376557 chrX:74376135-74376148 chrX:74376541-74376562 chrX:74376548-74376555 chrX:74376548-74376555 chrX:74376544-74376560 chrX:74376548-74376555
3	CEBPB	chrX:74376459-74376850	A549	lung:	n/a	n/a
4	KAP1	chrX:74375860-74376855	U2OS	brain:	n/a	chrX:74376121-74376129
5	POLR2A	chrX:74375322-74376898	GM12878	blood:	n/a	n/a
6	TCF7L2	chrX:74375969-74376835	HEK293	kidney:	n/a	n/a
7	CEBPB	chrX:74376300-74376868	IMR90	lung:	n/a	n/a
8	POLR2A	chrX:74376569-74376875	HUVEC	blood vessel:	n/a	n/a
9	TCF7L2	chrX:74375731-74376775	Hela-S3	cervix:	n/a	n/a
10	HCFC1	chrX:74375746-74377101	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chrX:74375328-74376769	GM12891	blood:	n/a	n/a
12	CEBPB	chrX:74376508-74376841	HepG2	liver:	n/a	n/a
13	CEBPB	chrX:74375881-74376876	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chrX:74376481-74376839	K562	blood:	n/a	n/a
15	CEBPB	chrX:74376497-74376894	MCF-7	breast:	n/a	n/a
16	CEBPB	chrX:74376504-74376886	A549	lung:	n/a	n/a
17	CEBPB	chrX:74376404-74376912	A549	lung:	n/a	n/a
18	CEBPB	chrX:74376543-74376777	K562	blood:	n/a	n/a
19	GATA1	chrX:74374148-74376905	PBDE	blood:	n/a	chrX:74376547-74376557 chrX:74376135-74376148 chrX:74376541-74376562 chrX:74376548-74376555 chrX:74376548-74376555 chrX:74376544-74376560 chrX:74376548-74376555
20	KAP1	chrX:74375541-74376832	HEK293	kidney:	n/a	chrX:74376121-74376129
21	CEBPB	chrX:74376506-74376853	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:74376635..74378465-chrX:74385183..74387134,3	K562	blood:

Variant related genes	Relation type
ABCB7	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1340990	0.95[YRI][hapmap]
rs1472396	0.95[YRI][hapmap]
rs5981761	0.95[YRI][hapmap]

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	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv531128	chrX:74232814-74416887	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3365132	chrX:74308852-74407212	Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv534085	chrX:74360310-74516106	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74373800-74377200	Active TSS	GM12878-XiMat	blood
2	chrX:74374000-74376800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:74374200-74377000	Active TSS	K562	blood
4	chrX:74374800-74376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chrX:74374800-74376800	Active TSS	Fetal Intestine Large	intestine
6	chrX:74374800-74376800	Active TSS	Stomach Mucosa	stomach
7	chrX:74374800-74376800	Active TSS	NH-A	brain
8	chrX:74374800-74377000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chrX:74374800-74377000	Active TSS	Fetal Brain Female	brain
10	chrX:74374800-74377000	Active TSS	Fetal Muscle Leg	muscle
11	chrX:74374800-74377000	Active TSS	Right Atrium	heart
12	chrX:74374800-74377000	Active TSS	NHDF-Ad	bronchial
13	chrX:74374800-74377200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chrX:74374800-74377200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chrX:74375000-74376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chrX:74375000-74376800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chrX:74375000-74376800	Active TSS	Brain Substantia Nigra	brain
18	chrX:74375000-74377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chrX:74375000-74377000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chrX:74375000-74377000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chrX:74375000-74377000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chrX:74375000-74377000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chrX:74375000-74377000	Active TSS	Duodenum Mucosa	Duodenum
24	chrX:74375000-74377000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chrX:74375000-74377200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chrX:74375200-74376800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chrX:74375200-74376800	Active TSS	Primary B cells from cord blood	blood
28	chrX:74375200-74376800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chrX:74375200-74376800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chrX:74375200-74376800	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chrX:74375200-74376800	Active TSS	Brain Germinal Matrix	brain
32	chrX:74375200-74376800	Active TSS	Brain Hippocampus Middle	brain
33	chrX:74375200-74376800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chrX:74375200-74376800	Active TSS	Fetal Intestine Small	intestine
35	chrX:74375200-74376800	Active TSS	Fetal Kidney	kidney
36	chrX:74375200-74376800	Active TSS	Left Ventricle	heart
37	chrX:74375200-74376800	Active TSS	Right Ventricle	heart
38	chrX:74375200-74376800	Active TSS	Stomach Smooth Muscle	stomach
39	chrX:74375200-74376800	Active TSS	Thymus	Thymus
40	chrX:74375200-74376800	Active TSS	HSMM	muscle
41	chrX:74375200-74376800	Active TSS	HSMMtube	muscle
42	chrX:74375200-74376800	Active TSS	NHLF	lung
43	chrX:74375200-74377000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chrX:74375200-74377000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chrX:74375200-74377000	Active TSS	Primary T cells fromperipheralblood	blood
46	chrX:74375200-74377000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chrX:74375200-74377000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chrX:74375200-74377000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chrX:74375200-74377000	Active TSS	Muscle Satellite Cultured Cells	--
50	chrX:74375200-74377000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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