Variant report

Variant	rs5981781
Chromosome Location	chrX:74376196-74376197
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	TAF1	chrX:74375848-74376334	MCF-7	breast:	n/a	n/a
2	YY1	chrX:74375820-74376261	GM12891	blood:	n/a	n/a
3	YY1	chrX:74375715-74376279	K562	blood:	n/a	n/a
4	POLR2A	chrX:74375904-74376282	GM12878	blood:	n/a	n/a
5	POLR2A	chrX:74375923-74376315	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chrX:74375910-74376246	HepG2	liver:	n/a	n/a
7	TAF1	chrX:74375867-74376320	GM12892	blood:	n/a	n/a
8	POLR2A	chrX:74375852-74376378	PANC-1	pancreas:	n/a	n/a
9	POU2F2	chrX:74375816-74376312	GM12878	blood:	n/a	n/a
10	ELK1	chrX:74376024-74376528	GM12878	blood:	n/a	chrX:74376214-74376223 chrX:74376214-74376223
11	IRF1	chrX:74375954-74376348	K562	blood:	n/a	chrX:74376338-74376348
12	TCF12	chrX:74375668-74376406	A549	lung:	n/a	chrX:74375707-74375714 chrX:74375728-74375738
13	POLR2A	chrX:74375816-74376327	H1-neurons	neurons:	n/a	n/a
14	CHD2	chrX:74375773-74376335	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chrX:74375348-74376661	Hela-S3	cervix:	n/a	n/a
16	CHD2	chrX:74375913-74376244	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chrX:74375602-74376323	MCF-7	breast:	n/a	n/a
18	TAF1	chrX:74375701-74376446	GM12878	blood:	n/a	n/a
19	POLR2A	chrX:74375765-74376332	GM12891	blood:	n/a	n/a
20	TAF1	chrX:74375893-74376261	SK-N-SH	brain:	n/a	n/a
21	RAD21	chrX:74375841-74376228	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chrX:74375920-74376251	GM12892	blood:	n/a	n/a
23	POLR2A	chrX:74375699-74376566	Hela-S3	cervix:	n/a	n/a
24	SIN3A	chrX:74375587-74376506	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chrX:74376120-74376270	BE2_C	brain:	n/a	n/a
26	CHD2	chrX:74375890-74376232	K562	blood:	n/a	n/a
27	BRCA1	chrX:74375316-74376308	Hela-S3	cervix:	n/a	n/a
28	YY1	chrX:74375716-74376621	SK-N-SH_RA	brain:	n/a	chrX:74376525-74376535
29	CTCF	chrX:74376060-74376210	RPTEC	kidney:	n/a	n/a
30	MTA3	chrX:74375736-74376503	GM12878	blood:	n/a	n/a
31	WRNIP1	chrX:74375696-74376346	GM12878	blood:	n/a	n/a
32	YY1	chrX:74375701-74376328	NT2-D1	testis:	n/a	n/a
33	GABPA	chrX:74375821-74376623	MCF-7	breast:	n/a	n/a
34	SPI1	chrX:74375881-74376293	GM12878	blood:	n/a	n/a
35	PML	chrX:74375821-74376398	GM12878	blood:	n/a	chrX:74376121-74376129
36	TAF1	chrX:74375870-74376413	MCF-7	breast:	n/a	n/a
37	TEAD4	chrX:74375892-74376316	K562	blood:	n/a	n/a
38	MAZ	chrX:74375886-74376453	HepG2	liver:	n/a	n/a
39	ELF1	chrX:74375823-74376461	MCF-7	breast:	n/a	chrX:74376210-74376223
40	MYC	chrX:74376089-74376203	Hela-S3	cervix:	n/a	n/a
41	GABPA	chrX:74376152-74376380	A549	lung:	n/a	n/a
42	RAD21	chrX:74375999-74376230	SK-N-SH_RA	brain:	n/a	n/a
43	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
44	E2F4	chrX:74375946-74376222	GM12878	blood:	n/a	n/a
45	MAX	chrX:74375756-74376218	HepG2	liver:	n/a	n/a
46	GABPA	chrX:74375890-74376461	SK-N-SH	brain:	n/a	n/a
47	BHLHE40	chrX:74376034-74376369	HepG2	liver:	n/a	n/a
48	CTCF	chrX:74376080-74376230	AG09319	gingival:	n/a	n/a
49	RCOR1	chrX:74375851-74376399	GM12878	blood:	n/a	n/a
50	POLR2A	chrX:74375776-74376335	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:576620..578202-chrX:74374249..74376331,2	MCF-7	breast:

Variant related genes	Relation type
ABCB7	TF binding region
ENSG00000103326	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10482116	1.00[YRI][hapmap]
rs5981315	1.00[YRI][hapmap]
rs5981318	1.00[YRI][hapmap]
rs5981319	1.00[YRI][hapmap]
rs5981759	1.00[YRI][hapmap]
rs5981800	1.00[YRI][hapmap]
rs6655627	1.00[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:127 , 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:74374400-74376600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chrX:74374600-74376200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chrX:74374600-74376600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chrX:74374800-74376200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chrX:74374800-74376600	Active TSS	H1 Cell Line	embryonic stem cell
9	chrX:74374800-74376600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chrX:74374800-74376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chrX:74374800-74376800	Active TSS	Fetal Intestine Large	intestine
12	chrX:74374800-74376800	Active TSS	Stomach Mucosa	stomach
13	chrX:74374800-74376800	Active TSS	NH-A	brain
14	chrX:74374800-74377000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chrX:74374800-74377000	Active TSS	Fetal Brain Female	brain
16	chrX:74374800-74377000	Active TSS	Fetal Muscle Leg	muscle
17	chrX:74374800-74377000	Active TSS	Right Atrium	heart
18	chrX:74374800-74377000	Active TSS	NHDF-Ad	bronchial
19	chrX:74374800-74377200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chrX:74374800-74377200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chrX:74375000-74376600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chrX:74375000-74376600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chrX:74375000-74376600	Active TSS	HMEC	breast
24	chrX:74375000-74376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chrX:74375000-74376800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chrX:74375000-74376800	Active TSS	Brain Substantia Nigra	brain
27	chrX:74375000-74377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chrX:74375000-74377000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chrX:74375000-74377000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chrX:74375000-74377000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chrX:74375000-74377000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chrX:74375000-74377000	Active TSS	Duodenum Mucosa	Duodenum
33	chrX:74375000-74377000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chrX:74375000-74377200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chrX:74375200-74376200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chrX:74375200-74376200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chrX:74375200-74376400	Active TSS	Fetal Heart	heart
38	chrX:74375200-74376400	Active TSS	Hela-S3	cervix
39	chrX:74375200-74376600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chrX:74375200-74376600	Active TSS	H9 Cell Line	embryonic stem cell
41	chrX:74375200-74376600	Active TSS	HUVEC	blood vessel
42	chrX:74375200-74376800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chrX:74375200-74376800	Active TSS	Primary B cells from cord blood	blood
44	chrX:74375200-74376800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chrX:74375200-74376800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chrX:74375200-74376800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chrX:74375200-74376800	Active TSS	Brain Germinal Matrix	brain
48	chrX:74375200-74376800	Active TSS	Brain Hippocampus Middle	brain
49	chrX:74375200-74376800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chrX:74375200-74376800	Active TSS	Fetal Intestine Small	intestine

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