Variant report

Variant	rs11730346
Chromosome Location	chr4:175202610-175202611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:175202355-175202864	K562	blood:	n/a	n/a
2	MAX	chr4:175202513-175202840	K562	blood:	n/a	n/a
3	POLR2A	chr4:175202463-175202660	ProgFib	skin:	n/a	n/a
4	RCOR1	chr4:175202287-175202885	K562	blood:	n/a	n/a
5	ARID3A	chr4:175202419-175202866	K562	blood:	n/a	n/a
6	E2F6	chr4:175202534-175202819	K562	blood:	n/a	n/a
7	POLR2A	chr4:175202402-175202649	MCF10A-Er-Src	breast:	n/a	n/a
8	USF2	chr4:175202599-175202795	Hela-S3	cervix:	n/a	n/a
9	USF1	chr4:175202441-175202821	K562	blood:	n/a	n/a
10	TBL1XR1	chr4:175202448-175202801	K562	blood:	n/a	n/a
11	MAX	chr4:175202596-175202783	K562	blood:	n/a	n/a
12	RCOR1	chr4:175202415-175202615	K562	blood:	n/a	n/a
13	WRNIP1	chr4:175202578-175202790	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175186610..175188170-chr4:175200585..175202935,2	K562	blood:
2	chr4:175201466..175204098-chr4:175240301..175242969,3	K562	blood:
3	chr4:175201466..175203946-chr4:175240301..175242969,2	K562	blood:
4	chr4:175197802..175199409-chr4:175202046..175204752,2	MCF-7	breast:
5	chr4:175182024..175184066-chr4:175201212..175203528,2	K562	blood:

No data

Variant related genes	Relation type
CEP44	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10520276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55857384	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62335800	0.86[AMR][1000 genomes]

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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11730346	KIAA1712	cis	parietal	SCAN
rs11730346	KIAA1712	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
2	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
3	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
5	chr4:175178000-175203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:175181600-175203400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:175181600-175203600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:175184200-175203600	Weak transcription	HSMM	muscle
10	chr4:175184400-175204000	Weak transcription	Left Ventricle	heart
11	chr4:175188600-175203400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:175188600-175204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:175190000-175203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:175190200-175204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:175190800-175203600	Weak transcription	Fetal Stomach	stomach
16	chr4:175195400-175203800	Weak transcription	Placenta	Placenta
17	chr4:175198800-175203200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:175199200-175204000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:175199400-175203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:175200400-175204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:175200800-175203400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:175201000-175203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:175201400-175203400	Enhancers	Primary T cells from cord blood	blood
24	chr4:175201400-175203800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:175201400-175204000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:175201600-175203600	Enhancers	Liver	Liver
27	chr4:175201800-175203600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:175201800-175203600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:175201800-175203600	Enhancers	Brain Germinal Matrix	brain
30	chr4:175201800-175204000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr4:175201800-175204000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr4:175201800-175204000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:175202000-175203400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:175202000-175203400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:175202000-175203600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:175202000-175203600	Weak transcription	Fetal Thymus	thymus
37	chr4:175202000-175207400	Active TSS	K562	blood
38	chr4:175202200-175203200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:175202200-175203600	Enhancers	Fetal Heart	heart
40	chr4:175202200-175204000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:175202200-175204200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:175202400-175202800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:175202400-175202800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:175202400-175202800	Enhancers	Gastric	stomach
45	chr4:175202400-175202800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:175202400-175203000	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:175202400-175203000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr4:175202400-175203000	Enhancers	HMEC	breast
49	chr4:175202400-175203200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:175202400-175203200	Enhancers	Pancreatic Islets	Pancreatic Islet

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