Variant report

Variant	rs10466422
Chromosome Location	chr11:18127218-18127219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18127157-18127939	SK-N-MC	brain:	n/a	n/a
2	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a
3	SIN3AK20	chr11:18127215-18127815	K562	blood:	n/a	n/a
4	POLR2A	chr11:18127157-18127907	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:18127202-18127960	HepG2	liver:	n/a	n/a
6	TCF12	chr11:18127146-18128036	A549	lung:	n/a	chr11:18127372-18127382 chr11:18127719-18127726
7	ZBTB7A	chr11:18127207-18127835	K562	blood:	n/a	n/a
8	POLR2A	chr11:18127025-18128034	PFSK-1	brain:	n/a	n/a
9	MAX	chr11:18127161-18127902	K562	blood:	n/a	n/a
10	YY1	chr11:18127214-18127853	SK-N-SH_RA	brain:	n/a	n/a
11	MAX	chr11:18127206-18127896	ECC-1	luminal epithelium:	n/a	n/a
12	ELF1	chr11:18127215-18127832	GM12878	blood:	n/a	n/a
13	MTA3	chr11:18127087-18127819	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:18127214-18127799	GM18951	blood:	n/a	n/a
15	ZBTB7A	chr11:18127176-18127884	K562	blood:	n/a	n/a
16	GABPA	chr11:18127060-18128080	MCF-7	breast:	n/a	n/a
17	TAF1	chr11:18127108-18127850	ECC-1	luminal epithelium:	n/a	n/a
18	HCFC1	chr11:18126925-18128087	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr11:18127047-18128015	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:18127211-18127949	U87	brain:	n/a	n/a
21	HDAC2	chr11:18127202-18128001	MCF-7	breast:	n/a	n/a
22	MAX	chr11:18127097-18128018	A549	lung:	n/a	n/a
23	POLR2A	chr11:18127187-18127815	GM12878	blood:	n/a	n/a
24	CTCF	chr11:18126993-18128079	SK-N-SH	brain:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
25	MYC	chr11:18127024-18127890	K562	blood:	n/a	n/a
26	YY1	chr11:18127187-18127890	SK-N-SH_RA	brain:	n/a	n/a
27	POLR2A	chr11:18127213-18127980	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr11:18126936-18128074	H1-neurons	neurons:	n/a	chr11:18127714-18127727 chr11:18127366-18127379 chr11:18127711-18127724
29	PML	chr11:18127067-18127948	GM12878	blood:	n/a	n/a
30	SMARCC2	chr11:18127151-18127984	Hela-S3	cervix:	n/a	n/a
31	MYC	chr11:18127122-18127888	K562	blood:	n/a	n/a
32	STAT1	chr11:18127022-18127855	GM12878	blood:	n/a	n/a
33	TAF7	chr11:18127203-18127844	H1-hESC	embryonic stem cell:	n/a	n/a
34	RUNX3	chr11:18127088-18127860	GM12878	blood:	n/a	n/a
35	TAF1	chr11:18127134-18127904	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr11:18127156-18127793	K562	blood:	n/a	n/a
37	JUN	chr11:18127056-18128041	K562	blood:	n/a	n/a
38	POLR2A	chr11:18127218-18127893	ProgFib	skin:	n/a	n/a
39	POLR2A	chr11:18127211-18127821	U87	brain:	n/a	n/a
40	MXI1	chr11:18127131-18127826	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr11:18127085-18127871	H1-hESC	embryonic stem cell:	n/a	chr11:18127714-18127727
42	POLR2A	chr11:18127147-18127895	K562	blood:	n/a	n/a
43	TAF1	chr11:18127084-18127844	H1-hESC	embryonic stem cell:	n/a	n/a
44	GABPA	chr11:18127173-18128004	A549	lung:	n/a	n/a
45	RCOR1	chr11:18127108-18127885	K562	blood:	n/a	n/a
46	CCNT2	chr11:18127203-18127809	K562	blood:	n/a	chr11:18127745-18127754
47	POLR2A	chr11:18127119-18127917	H1-neurons	neurons:	n/a	n/a
48	ZBTB7A	chr11:18127164-18127972	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr11:18127213-18127863	GM12878	blood:	n/a	n/a
50	MYC	chr11:18127196-18127850	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:
2	chr11:18113148..18115855-chr11:18125984..18127640,2	MCF-7	breast:
3	chr11:18033485..18036057-chr11:18124716..18127536,3	MCF-7	breast:
4	chr11:18120429..18123330-chr11:18124710..18127285,2	K562	blood:
5	chr11:18121947..18124266-chr11:18125749..18127419,2	MCF-7	breast:
6	chr11:18034152..18035903-chr11:18125561..18127722,2	MCF-7	breast:
7	chr11:18118808..18120396-chr11:18125580..18127566,2	K562	blood:

No data

Variant related genes	Relation type
HIGD1AP5	TF binding region
ENSG00000166788	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11024459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276137	1.00[AMR][1000 genomes]
rs12289911	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291516	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295348	1.00[AMR][1000 genomes]
rs12295423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377295	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377403	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16934928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16934941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16935117	1.00[AMR][1000 genomes]
rs28482781	1.00[AMR][1000 genomes]
rs7106562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938082	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs871698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 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	chr11:18126200-18127600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18126200-18127800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:18126200-18128000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:18126200-18128000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:18126200-18128000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:18126200-18128000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:18126400-18127600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:18126400-18127800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:18126400-18127800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:18126400-18127800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:18126400-18127800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:18126400-18128000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:18126400-18128000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:18126400-18128000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:18126400-18128000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:18126400-18128000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:18126400-18128000	Active TSS	NH-A	brain
22	chr11:18126400-18128200	Active TSS	Ovary	ovary
23	chr11:18126400-18128200	Active TSS	NHDF-Ad	bronchial
24	chr11:18126600-18127400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:18126600-18127400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:18126600-18127600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:18126600-18127800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:18126600-18127800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:18126600-18127800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:18126600-18127800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:18126600-18127800	Active TSS	Fetal Kidney	kidney
32	chr11:18126600-18127800	Active TSS	Rectal Smooth Muscle	rectum
33	chr11:18126600-18127800	Active TSS	Right Ventricle	heart
34	chr11:18126600-18128000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:18126600-18128000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:18126600-18128000	Active TSS	Brain Substantia Nigra	brain
37	chr11:18126600-18128000	Active TSS	GM12878-XiMat	blood
38	chr11:18126600-18128000	Active TSS	HSMM	muscle
39	chr11:18126600-18128000	Active TSS	K562	blood
40	chr11:18126600-18128000	Active TSS	NHLF	lung
41	chr11:18126600-18128200	Active TSS	Brain Angular Gyrus	brain
42	chr11:18126600-18128200	Active TSS	Fetal Brain Female	brain
43	chr11:18126600-18128200	Active TSS	Psoas Muscle	Psoas
44	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
46	chr11:18126800-18127600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:18126800-18127600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:18126800-18127600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr11:18126800-18127600	Active TSS	HMEC	breast
50	chr11:18126800-18127800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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