Variant report

Variant	rs386827908
Chromosome Location	chrX:138286198-138286199
allele	AT/GC
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	CTCF	chrX:138286140-138286290	NHEK	skin:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
2	UBTF	chrX:138285942-138286782	K562	blood:	n/a	n/a
3	POLR2A	chrX:138285442-138287746	MCF-7	breast:	n/a	n/a
4	POLR2A	chrX:138285813-138286685	MCF-7	breast:	n/a	n/a
5	POLR2A	chrX:138286151-138286289	ProgFib	skin:	n/a	n/a
6	CTCF	chrX:138286080-138286230	HEEpiC	esophagus:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
7	POLR2A	chrX:138285842-138286381	K562	blood:	n/a	n/a
8	NR2F2	chrX:138285827-138286258	MCF-7	breast:	n/a	chrX:138286095-138286110
9	E2F6	chrX:138285774-138286805	K562	blood:	n/a	chrX:138286420-138286430 chrX:138286414-138286424 chrX:138286150-138286159 chrX:138286417-138286427 chrX:138286169-138286180
10	REST	chrX:138285098-138287705	H1-neurons	neurons:	n/a	chrX:138285921-138285934 chrX:138287111-138287131 chrX:138287233-138287246 chrX:138285181-138285194 chrX:138285745-138285758 chrX:138285179-138285189
11	CTCF	chrX:138285912-138286237	K562	blood:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
12	CTCF	chrX:138286130-138286204	GM12891	blood:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
13	E2F6	chrX:138285696-138286579	H1-hESC	embryonic stem cell:	n/a	chrX:138286420-138286430 chrX:138286414-138286424 chrX:138285744-138285753 chrX:138286150-138286159 chrX:138285744-138285756 chrX:138286417-138286427 chrX:138286169-138286180
14	MYC	chrX:138286142-138286658	MCF-7	breast:	n/a	chrX:138286585-138286595
15	POLR2A	chrX:138286133-138286247	K562	blood:	n/a	n/a
16	MAX	chrX:138285835-138286309	K562	blood:	n/a	n/a
17	RCOR1	chrX:138285832-138286375	K562	blood:	n/a	n/a
18	POLR2A	chrX:138286004-138286791	K562	blood:	n/a	n/a
19	CTBP2	chrX:138284616-138286747	H1-hESC	embryonic stem cell:	n/a	n/a
20	NR2F2	chrX:138285899-138286245	K562	blood:	n/a	chrX:138286095-138286110
21	CTCF	chrX:138286060-138286210	Caco-2	colon:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
22	MAX	chrX:138285673-138286512	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chrX:138285315-138286437	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chrX:138285873-138287837	K562	blood:	n/a	n/a
25	HCFC1	chrX:138286093-138286268	K562	blood:	n/a	n/a
26	CTCF	chrX:138285906-138286233	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
27	ZNF143	chrX:138285867-138286206	H1-hESC	embryonic stem cell:	n/a	chrX:138286021-138286040
28	POLR2A	chrX:138285798-138287834	K562	blood:	n/a	n/a
29	CTCF	chrX:138286100-138286250	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
30	CTCF	chrX:138285824-138286263	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
31	POLR2A	chrX:138285167-138286591	H1-neurons	neurons:	n/a	n/a
32	YY1	chrX:138286087-138286223	K562	blood:	n/a	n/a
33	E2F6	chrX:138285865-138286519	H1-hESC	embryonic stem cell:	n/a	chrX:138286420-138286430 chrX:138286414-138286424 chrX:138286150-138286159 chrX:138286417-138286427 chrX:138286169-138286180
34	E2F6	chrX:138285475-138286767	K562	blood:	n/a	chrX:138286420-138286430 chrX:138286414-138286424 chrX:138285744-138285753 chrX:138286150-138286159 chrX:138285744-138285756 chrX:138286417-138286427 chrX:138285550-138285560 chrX:138286169-138286180
35	CTCF	chrX:138286160-138286310	K562	blood:	n/a	n/a
36	POLR2A	chrX:138285607-138286411	H1-neurons	neurons:	n/a	n/a
37	MAZ	chrX:138285771-138286321	K562	blood:	n/a	n/a
38	POLR2A	chrX:138286178-138286618	MCF10A-Er-Src	breast:	n/a	n/a
39	NR2F2	chrX:138285895-138286345	MCF-7	breast:	n/a	chrX:138286095-138286110
40	POLR2A	chrX:138286097-138286289	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chrX:138285828-138286253	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
42	MAX	chrX:138285689-138286558	K562	blood:	n/a	n/a
43	HMGN3	chrX:138285762-138286638	K562	blood:	n/a	n/a
44	TBP	chrX:138285839-138286431	K562	blood:	n/a	n/a
45	CTCF	chrX:138286144-138286229	ProgFib	skin:	n/a	n/a
46	CTCF	chrX:138285868-138286204	H1-hESC	embryonic stem cell:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
47	CTCF	chrX:138286160-138286310	AG10803	skin:	n/a	n/a
48	CTCF	chrX:138286100-138286250	AoAF	blood vessel:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
49	MAX	chrX:138285770-138286592	A549	lung:	n/a	n/a
50	BHLHE40	chrX:138285845-138286260	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:57126223..57126746-chrX:138285972..138286492,2	Hela-S3	cervix:
2	chrX:138285411..138288031-chrX:138303226..138305707,3	K562	blood:

Variant related genes	Relation type
FGF13	TF binding region
ENSG00000140848	Chromatin interaction
ENSG00000129682	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3346694	chrX:138283686-138289084	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3447668	chrX:138284786-138286884	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138283000-138288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:138284400-138287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:138284400-138288400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chrX:138284600-138286400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chrX:138284600-138287800	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chrX:138284600-138288000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chrX:138284600-138288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chrX:138284600-138288600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chrX:138284600-138288800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chrX:138284600-138288800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chrX:138284800-138287800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:138284800-138287800	Active TSS	K562	blood
13	chrX:138284800-138288000	Active TSS	Psoas Muscle	Psoas
14	chrX:138284800-138288400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chrX:138284800-138288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chrX:138285000-138286200	Enhancers	Spleen	Spleen
17	chrX:138285000-138286400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chrX:138285000-138287400	Active TSS	NH-A	brain
19	chrX:138285000-138287800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chrX:138285200-138286400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:138285200-138286400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chrX:138285200-138287000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chrX:138285200-138287000	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chrX:138285200-138287600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chrX:138285200-138287800	Active TSS	Brain Anterior Caudate	brain
26	chrX:138285200-138287800	Active TSS	Brain Germinal Matrix	brain
27	chrX:138285200-138288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chrX:138285200-138288400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chrX:138285200-138288600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chrX:138285400-138286400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chrX:138285400-138287600	Active TSS	Esophagus	oesophagus
32	chrX:138285400-138287600	Active TSS	Gastric	stomach
33	chrX:138285400-138287800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chrX:138285400-138288000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chrX:138285400-138288000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chrX:138285400-138288000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
37	chrX:138285400-138288000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
38	chrX:138285400-138288000	Active TSS	Ovary	ovary
39	chrX:138285400-138288000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chrX:138285600-138287000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chrX:138285600-138287800	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chrX:138285600-138288000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chrX:138285600-138288000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chrX:138285600-138288000	Active TSS	Right Ventricle	heart
45	chrX:138285800-138286200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chrX:138285800-138286200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chrX:138285800-138286200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:138285800-138286200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chrX:138285800-138286200	Active TSS	Stomach Mucosa	stomach
50	chrX:138285800-138286400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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