Variant report

Variant	rs189119994
Chromosome Location	chr11:18127720-18127721
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	CTCF	chr11:18127600-18127750	AG09309	skin:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
2	POLR2A	chr11:18127157-18127939	SK-N-MC	brain:	n/a	n/a
3	CTCF	chr11:18127600-18127750	SAEC	small airway:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
4	POLR2A	chr11:18127308-18127891	SK-N-MC	brain:	n/a	n/a
5	TBP	chr11:18127385-18127936	K562	blood:	n/a	n/a
6	POLR2A	chr11:18127256-18127946	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr11:18127246-18127931	SK-N-SH	brain:	n/a	n/a
8	HEY1	chr11:18127265-18127795	K562	blood:	n/a	n/a
9	CTCF	chr11:18127660-18127810	MCF-7	breast:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
10	CTCF	chr11:18127541-18127884	ProgFib	skin:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
11	SP2	chr11:18127420-18127816	K562	blood:	n/a	n/a
12	RAD21	chr11:18127525-18127866	HepG2	liver:	n/a	chr11:18127691-18127710 chr11:18127693-18127705
13	SRF	chr11:18127453-18127791	H1-hESC	embryonic stem cell:	n/a	chr11:18127660-18127670
14	CTCF	chr11:18127640-18127790	AoAF	blood vessel:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
15	FOSL2	chr11:18127346-18127917	A549	lung:	n/a	n/a
16	E2F4	chr11:18127415-18127932	K562	blood:	n/a	n/a
17	CTCF	chr11:18127640-18127790	GM12864	blood:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
18	CTCF	chr11:18127522-18127857	HepG2	liver:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
19	CTCF	chr11:18127559-18128042	GM10266	blood:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
20	CTCF	chr11:18127640-18127790	GM12869	blood:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
21	RAD21	chr11:18127577-18127856	H1-hESC	embryonic stem cell:	n/a	chr11:18127691-18127710 chr11:18127693-18127705
22	MAX	chr11:18127263-18127933	ECC-1	luminal epithelium:	n/a	n/a
23	RELA	chr11:18127468-18127924	GM10847	blood:	n/a	n/a
24	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a
25	RAD21	chr11:18127545-18127792	SK-N-SH_RA	brain:	n/a	chr11:18127691-18127710 chr11:18127693-18127705
26	ETS1	chr11:18127474-18127748	K562	blood:	n/a	chr11:18127618-18127627
27	POLR2A	chr11:18127333-18127820	NB4	blood:	n/a	n/a
28	RAD21	chr11:18127571-18127871	A549	lung:	n/a	chr11:18127691-18127710 chr11:18127693-18127705
29	CTCF	chr11:18127532-18127902	H1-hESC	embryonic stem cell:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
30	HEY1	chr11:18127370-18127722	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:18127301-18127884	Gliobla	brain:	n/a	n/a
32	TAL1	chr11:18127489-18127873	K562	blood:	n/a	chr11:18127697-18127706
33	JUND	chr11:18127601-18127760	H1-hESC	embryonic stem cell:	n/a	n/a
34	ELF1	chr11:18127412-18127818	HepG2	liver:	n/a	n/a
35	CTCF	chr11:18127600-18127750	Caco-2	colon:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
36	EGR1	chr11:18127489-18127786	K562	blood:	n/a	n/a
37	EGR1	chr11:18127517-18127761	GM12878	blood:	n/a	n/a
38	JUN	chr11:18127478-18127842	K562	blood:	n/a	n/a
39	SIN3AK20	chr11:18127215-18127815	K562	blood:	n/a	n/a
40	ZMIZ1	chr11:18127414-18127864	K562	blood:	n/a	n/a
41	GABPA	chr11:18127265-18127966	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:18127660-18127810	HMF	breast:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
43	TBP	chr11:18127317-18127887	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr11:18127505-18127849	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr11:18127600-18127750	BE2_C	brain:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
46	REST	chr11:18127331-18127890	A549	lung:	n/a	chr11:18127714-18127727 chr11:18127366-18127379 chr11:18127711-18127724
47	EP300	chr11:18127293-18127990	SK-N-SH	brain:	n/a	chr11:18127296-18127305
48	CEBPB	chr11:18127442-18127781	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:18127397-18127792	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr11:18127157-18127907	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18127696-18127746	SK-N-SH	brain:	n/a
2	chr11:18127696-18127746	AG09309	skin:	n/a
3	chr11:18127676-18127726	PANC-1	pancreas:	n/a
4	chr11:18127696-18127746	CMK	blood:	n/a
5	chr11:18127696-18127746	PFSK-1	brain:	n/a
6	chr11:18127676-18127726	HRCEpiC	kidney:	n/a
7	chr11:18127696-18127746	PANC-1	pancreas:	n/a
8	chr11:18127696-18127746	LNCaP	prostate:	n/a
9	chr11:18127696-18127746	GM12891	blood:	n/a
10	chr11:18127696-18127746	Jurkat	blood:	n/a
11	chr11:18127676-18127726	Jurkat	blood:	n/a
12	chr11:18127676-18127726	NT2-D1	testis:	n/a
13	chr11:18127696-18127746	Hela-S3	cervix:	n/a
14	chr11:18127676-18127726	HCM	heart:	n/a
15	chr11:18127696-18127746	NHDF-neo	bronchial:	n/a
16	chr11:18127696-18127746	HMEC	breast:	n/a
17	chr11:18127676-18127726	GM12891	blood:	n/a
18	chr11:18127696-18127746	AG09319	gingival:	n/a
19	chr11:18127696-18127746	NT2-D1	testis:	n/a
20	chr11:18127696-18127746	ovcar-3	ovarian:	n/a
21	chr11:18127696-18127746	GM12878	blood:	n/a
22	chr11:18127676-18127726	HEK293	kidney:	embryo
23	chr11:18127676-18127726	HIPEpiC	eye:	n/a
24	chr11:18127676-18127726	HRPEpiC	eye:	n/a
25	chr11:18127676-18127726	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:18127676-18127726	HCF	heart:	n/a
27	chr11:18127696-18127746	HRE	kidney:	n/a
28	chr11:18127676-18127726	HAEpiC	amniotic membrane:	n/a
29	chr11:18127676-18127726	CMK	blood:	n/a
30	chr11:18127676-18127726	T-47D	breast:	n/a
31	chr11:18127696-18127746	SK-N-SH_RA	brain:	n/a
32	chr11:18127696-18127746	HRPEpiC	eye:	n/a
33	chr11:18127696-18127746	HIPEpiC	eye:	n/a
34	chr11:18127676-18127726	IMR90	lung:	fetal
35	chr11:18127696-18127746	HL-60	blood:	n/a
36	chr11:18127676-18127726	ECC-1	luminal epithelium:	n/a
37	chr11:18127676-18127726	U87	brain:	n/a
38	chr11:18127696-18127746	HUVEC	blood vessel:	n/a
39	chr11:18127696-18127746	HNPCEpiC	eye:	n/a
40	chr11:18127676-18127726	NB4	blood:	n/a
41	chr11:18127676-18127726	SK-N-SH_RA	brain:	n/a
42	chr11:18127676-18127726	HUVEC	blood vessel:	n/a
43	chr11:18127676-18127726	MCF-7	breast:	n/a
44	chr11:18127696-18127746	MCF10A-Er-Src	breast:	n/a
45	chr11:18127676-18127726	H1-hESC	embryonic stem cell:	embryo
46	chr11:18127676-18127726	HepG2	liver:	n/a
47	chr11:18127696-18127746	NB4	blood:	n/a
48	chr11:18127696-18127746	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:18127696-18127746	Caco-2	colon:	n/a
50	chr11:18127676-18127726	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:
2	chr11:18034152..18035903-chr11:18125561..18127722,2	MCF-7	breast:

Variant related genes	Relation type
SAAL1	TF binding region
HIGD1AP5	TF binding region
SAAL1	CpG island
HIGD1AP5	CpG island
ENSG00000129158	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18125800-18128000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:18126000-18127800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr11:18126000-18128000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:18126000-18128200	Active TSS	A549	lung
5	chr11:18126200-18127800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:18126200-18128000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:18126200-18128000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:18126200-18128000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:18126200-18128000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:18126400-18127800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:18126400-18127800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:18126400-18127800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:18126400-18127800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:18126400-18128000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:18126400-18128000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:18126400-18128000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:18126400-18128000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:18126400-18128000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:18126400-18128000	Active TSS	NH-A	brain
20	chr11:18126400-18128200	Active TSS	Ovary	ovary
21	chr11:18126400-18128200	Active TSS	NHDF-Ad	bronchial
22	chr11:18126600-18127800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:18126600-18127800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:18126600-18127800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:18126600-18127800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:18126600-18127800	Active TSS	Fetal Kidney	kidney
27	chr11:18126600-18127800	Active TSS	Rectal Smooth Muscle	rectum
28	chr11:18126600-18127800	Active TSS	Right Ventricle	heart
29	chr11:18126600-18128000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:18126600-18128000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:18126600-18128000	Active TSS	Brain Substantia Nigra	brain
32	chr11:18126600-18128000	Active TSS	GM12878-XiMat	blood
33	chr11:18126600-18128000	Active TSS	HSMM	muscle
34	chr11:18126600-18128000	Active TSS	K562	blood
35	chr11:18126600-18128000	Active TSS	NHLF	lung
36	chr11:18126600-18128200	Active TSS	Brain Angular Gyrus	brain
37	chr11:18126600-18128200	Active TSS	Fetal Brain Female	brain
38	chr11:18126600-18128200	Active TSS	Psoas Muscle	Psoas
39	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
41	chr11:18126800-18127800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:18126800-18127800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:18126800-18127800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:18126800-18127800	Active TSS	Esophagus	oesophagus
45	chr11:18126800-18127800	Active TSS	Fetal Intestine Large	intestine
46	chr11:18126800-18127800	Active TSS	Fetal Intestine Small	intestine
47	chr11:18126800-18127800	Active TSS	HUVEC	blood vessel
48	chr11:18126800-18128000	Active TSS	Brain Germinal Matrix	brain
49	chr11:18126800-18128000	Active TSS	Colonic Mucosa	Colon
50	chr11:18126800-18128000	Active TSS	Rectal Mucosa Donor 29	rectum

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