Variant report

Variant	rs4337997
Chromosome Location	chr7:22385417-22385418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:22381601..22384210-chr7:22384293..22386139,2	K562	blood:
2	chr7:22381601..22384539-chr7:22384625..22386139,2	K562	blood:
3	chr7:22383521..22386043-chr7:22390326..22392664,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10253231	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276593	0.80[CEU][hapmap];0.85[GIH][hapmap]
rs12333620	0.80[CEU][hapmap]
rs1568571	0.80[CEU][hapmap];0.85[GIH][hapmap]
rs17146709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2686528	0.80[CEU][hapmap]
rs28503868	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28698828	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34138486	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34291760	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4602791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71526397	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73073209	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7799625	0.85[GIH][hapmap]
rs9886056	0.94[CEU][hapmap];0.83[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1792359	chr7:22377636-22391198	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4337997	CCDC126	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:22377200-22386600	Enhancers	Liver	Liver
4	chr7:22380000-22392200	Weak transcription	Primary B cells from cord blood	blood
5	chr7:22380600-22385600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:22380600-22385800	Weak transcription	Brain Angular Gyrus	brain
7	chr7:22381600-22387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:22381800-22385600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:22381800-22390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:22382000-22385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:22382000-22388200	Weak transcription	Lung	lung
12	chr7:22382000-22390000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:22382000-22390200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:22382000-22390200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:22382800-22389400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:22383000-22395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:22383200-22385800	Enhancers	Pancreas	Pancrea
18	chr7:22383800-22386600	Enhancers	GM12878-XiMat	blood
19	chr7:22383800-22386800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:22384200-22388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:22384200-22395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:22384400-22386800	Enhancers	NHEK	skin
23	chr7:22384400-22388600	Enhancers	Fetal Intestine Large	intestine
24	chr7:22384600-22385800	Enhancers	Fetal Thymus	thymus
25	chr7:22384600-22388200	Enhancers	Fetal Intestine Small	intestine
26	chr7:22384800-22386000	Enhancers	K562	blood
27	chr7:22384800-22386600	Enhancers	Stomach Mucosa	stomach
28	chr7:22384800-22388200	Enhancers	HepG2	liver
29	chr7:22384800-22388400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:22384800-22395000	Weak transcription	Thymus	Thymus
31	chr7:22385000-22386000	Enhancers	Small Intestine	intestine
32	chr7:22385000-22387600	Weak transcription	Esophagus	oesophagus
33	chr7:22385000-22387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:22385000-22388400	Enhancers	Dnd41	blood
35	chr7:22385200-22385600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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