Variant report

Variant	rs534312891
Chromosome Location	chr15:38857130-38857131
allele	A/C
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	HA-E2F1	chr15:38856691-38857418	MCF-7	breast:	n/a	chr15:38857340-38857347 chr15:38857012-38857021 chr15:38857340-38857347 chr15:38857340-38857347
2	EP300	chr15:38856884-38857293	GM12878	blood:	n/a	chr15:38856900-38856916 chr15:38856944-38856953
3	MAX	chr15:38856869-38857304	H1-hESC	embryonic stem cell:	n/a	chr15:38856887-38856897
4	POLR2A	chr15:38856815-38857222	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr15:38857120-38857270	HAc	cerebellar:	n/a	n/a
6	USF1	chr15:38856935-38857272	HCT-116	colon:	n/a	n/a
7	POLR2A	chr15:38856787-38857304	GM12878	blood:	n/a	n/a
8	MAX	chr15:38856762-38857289	HepG2	liver:	n/a	chr15:38856887-38856897
9	CTCF	chr15:38856980-38857130	GM12869	blood:	n/a	n/a
10	CTCF	chr15:38857000-38857150	GM12872	blood:	n/a	n/a
11	TAF1	chr15:38856713-38857228	H1-hESC	embryonic stem cell:	n/a	n/a
12	NRF1	chr15:38856942-38857144	GM12878	blood:	n/a	chr15:38856944-38856953
13	CTCF	chr15:38856916-38857133	LNCaP	prostate:	n/a	n/a
14	MAX	chr15:38856783-38857685	H1-hESC	embryonic stem cell:	n/a	chr15:38856887-38856897
15	CTCF	chr15:38857080-38857230	HA-sp	spinal cord:	n/a	n/a
16	MAZ	chr15:38856846-38857181	K562	blood:	n/a	chr15:38856887-38856897
17	POLR2A	chr15:38855527-38857241	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:38856835-38857206	GM12891	blood:	n/a	n/a
19	CTCF	chr15:38856888-38857149	MCF-7	breast:	n/a	chr15:38856903-38856916
20	POLR2A	chr15:38852140-38857375	GM12878	blood:	n/a	n/a
21	E2F6	chr15:38856262-38857249	K562	blood:	n/a	chr15:38857012-38857021
22	POLR2A	chr15:38856703-38857231	GM12891	blood:	n/a	n/a
23	EP300	chr15:38856867-38857292	GM12878	blood:	n/a	chr15:38856900-38856916 chr15:38856944-38856953
24	POLR2A	chr15:38856259-38857623	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:38856887-38857152	Pancreas_OC	pancreas:	n/a	chr15:38856903-38856916
26	MAX	chr15:38856735-38857351	HCT-116	colon:	n/a	chr15:38856887-38856897
27	MAZ	chr15:38855705-38857330	IMR90	lung:	n/a	chr15:38856887-38856897
28	TBP	chr15:38856881-38857195	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr15:38856179-38857210	IMR90	lung:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856903-38856916 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
30	USF1	chr15:38856907-38857284	ECC-1	luminal epithelium:	n/a	n/a
31	JUND	chr15:38856923-38857167	K562	blood:	n/a	n/a
32	CTCF	chr15:38855490-38857435	SK-N-SH	brain:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856903-38856916 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
33	CTCF	chr15:38856885-38857150	A549	lung:	n/a	chr15:38856903-38856916
34	CTCF	chr15:38856909-38857131	MCF-7	breast:	n/a	n/a
35	CTCF	chr15:38856980-38857130	AG10803	skin:	n/a	n/a
36	MYC	chr15:38856830-38857204	K562	blood:	n/a	chr15:38856887-38856897
37	MAX	chr15:38856809-38857274	A549	lung:	n/a	chr15:38856887-38856897
38	CTCF	chr15:38856873-38857173	GM12891	blood:	n/a	chr15:38856903-38856916
39	CTCF	chr15:38856743-38857182	GM19239	blood:	n/a	chr15:38856903-38856916
40	CEBPB	chr15:38857083-38857143	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr15:38856980-38857130	GM06990	blood:	n/a	n/a
42	CTCF	chr15:38856834-38857142	Fibrobl	skin:	n/a	chr15:38856903-38856916
43	MYC	chr15:38856981-38857181	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr15:38855482-38857322	GM12878	blood:	n/a	n/a
45	RCOR1	chr15:38856830-38857240	K562	blood:	n/a	n/a
46	CTCF	chr15:38856980-38857130	WERI-Rb-1	eye:	n/a	n/a
47	MYC	chr15:38856904-38857195	GM12878	blood:	n/a	n/a
48	USF1	chr15:38856867-38857294	ECC-1	luminal epithelium:	n/a	chr15:38856900-38856916
49	RFX5	chr15:38856966-38857136	GM12878	blood:	n/a	chr15:38857048-38857057 chr15:38857046-38857060
50	CTCF	chr15:38856980-38857130	GM12871	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:38857099-38857149	HCF	heart:	n/a
2	chr15:38857099-38857149	NT2-D1	testis:	n/a
3	chr15:38857099-38857149	AG04450	lung:	fetal
4	chr15:38857099-38857149	BJ	skin:	n/a
5	chr15:38857099-38857149	ProgFib	skin:	n/a
6	chr15:38857099-38857149	Hepatocyte	liver:	n/a
7	chr15:38857099-38857149	SK-N-SH_RA	brain:	n/a
8	chr15:38857099-38857149	A549	lung:	n/a
9	chr15:38857099-38857149	IMR90	lung:	fetal
10	chr15:38857099-38857149	Caco-2	colon:	n/a
11	chr15:38857099-38857149	HNPCEpiC	eye:	n/a
12	chr15:38857099-38857149	Jurkat	blood:	n/a
13	chr15:38857099-38857149	HMEC	breast:	n/a
14	chr15:38857099-38857149	CMK	blood:	n/a
15	chr15:38857099-38857149	SK-N-MC	brain:	n/a
16	chr15:38857099-38857149	PrEC	prostate:	n/a
17	chr15:38857099-38857149	HRPEpiC	eye:	n/a
18	chr15:38857099-38857149	ECC-1	luminal epithelium:	n/a
19	chr15:38857099-38857149	SKMC	muscle:	n/a
20	chr15:38857099-38857149	SAEC	small airway:	n/a
21	chr15:38857099-38857149	GM12891	blood:	n/a
22	chr15:38857099-38857149	MCF10A-Er-Src	breast:	n/a
23	chr15:38857099-38857149	NHDF-neo	bronchial:	n/a
24	chr15:38857099-38857149	HCM	heart:	n/a
25	chr15:38857099-38857149	HL-60	blood:	n/a
26	chr15:38857099-38857149	HCT-116	colon:	n/a
27	chr15:38857099-38857149	HEEpiC	esophagus:	n/a
28	chr15:38857099-38857149	T-47D	breast:	n/a
29	chr15:38857099-38857149	AG10803	skin:	n/a
30	chr15:38857099-38857149	AoSMC	blood vessel:	n/a
31	chr15:38857099-38857149	GM12878	blood:	n/a
32	chr15:38857099-38857149	AG09309	skin:	n/a
33	chr15:38857099-38857149	GM12892	blood:	n/a
34	chr15:38857099-38857149	H1-hESC	embryonic stem cell:	embryo
35	chr15:38857099-38857149	LNCaP	prostate:	n/a
36	chr15:38857099-38857149	ovcar-3	ovarian:	n/a
37	chr15:38857099-38857149	AG04449	skin:	fetal
38	chr15:38857099-38857149	HRCEpiC	kidney:	n/a
39	chr15:38857099-38857149	RPTEC	kidney:	n/a
40	chr15:38857099-38857149	K562	blood:	n/a
41	chr15:38857099-38857149	AG09319	gingival:	n/a
42	chr15:38857099-38857149	NHBE	bronchial:	n/a
43	chr15:38857099-38857149	U87	brain:	n/a
44	chr15:38857099-38857149	SK-N-SH	brain:	n/a
45	chr15:38857099-38857149	GM19239	blood:	n/a
46	chr15:38857099-38857149	PANC-1	pancreas:	n/a
47	chr15:38857099-38857149	HRE	kidney:	n/a
48	chr15:38857099-38857149	GM06990	blood:	n/a
49	chr15:38857099-38857149	HPAEpiC	pulmonary alveolar:	n/a
50	chr15:38857099-38857149	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr15:38744991..38746966-chr15:38854872..38857693,2	MCF-7	breast:
2	chr14:20810314..20812793-chr15:38855404..38857234,2	MCF-7	breast:
3	chr15:38855739..38857440-chr15:38962653..38964526,2	MCF-7	breast:
4	chr15:38855702..38858314-chr15:38985984..38988881,2	MCF-7	breast:

Variant related genes	Relation type
RASGRP1	TF binding region
RASGRP1	CpG island
ENSG00000175779	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000259747	Chromatin interaction
ENSG00000171262	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949171	chr15:38232548-39033746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv904085	chr15:38786114-38985513	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv525770	chr15:38816833-39084956	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1054651	chr15:38827825-39082844	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv542358	chr15:38827825-39082844	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904086	chr15:38829198-38931396	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	esv3415080	chr15:38855685-38858233	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38853600-38857600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:38855000-38857800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:38855200-38857200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:38855200-38857200	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr15:38855400-38857400	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr15:38855400-38857600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:38855600-38857200	Active TSS	Primary T cells from cord blood	blood
8	chr15:38855600-38857200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:38855600-38857800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:38855800-38857200	Active TSS	Small Intestine	intestine
11	chr15:38855800-38857600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:38855800-38857600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:38856000-38857200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:38856000-38857200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:38856000-38857200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:38856000-38857200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr15:38856000-38857200	Active TSS	Gastric	stomach
18	chr15:38856000-38857200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr15:38856000-38857200	Active TSS	Thymus	Thymus
20	chr15:38856000-38857200	Bivalent/Poised TSS	Osteobl	bone
21	chr15:38856000-38857400	Active TSS	Fetal Kidney	kidney
22	chr15:38856000-38857600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:38856000-38857600	Active TSS	A549	lung
24	chr15:38856000-38857800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:38856000-38857800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:38856000-38857800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:38856200-38857200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:38856200-38857200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:38856200-38857200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:38856200-38857200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:38856200-38857200	Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:38856200-38857200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr15:38856200-38857200	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr15:38856200-38857200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr15:38856200-38857200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr15:38856200-38857200	Active TSS	Brain Substantia Nigra	brain
37	chr15:38856200-38857200	Active TSS	Fetal Thymus	thymus
38	chr15:38856200-38857200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:38856200-38857200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr15:38856200-38857200	Active TSS	Right Ventricle	heart
41	chr15:38856200-38857200	Active TSS	GM12878-XiMat	blood
42	chr15:38856200-38857200	Bivalent/Poised TSS	HUVEC	blood vessel
43	chr15:38856200-38857400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:38856200-38857400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:38856200-38857400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:38856200-38857400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:38856200-38857400	Bivalent/Poised TSS	HSMM	muscle
48	chr15:38856200-38857400	Bivalent/Poised TSS	HSMMtube	muscle
49	chr15:38856200-38857400	Active TSS	K562	blood
50	chr15:38856200-38857600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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