Variant report

Variant	rs6944392
Chromosome Location	chr7:128027391-128027392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127987316..127989019-chr7:128027005..128028396,14	K562	blood:
2	chr7:127986440..127989411-chr7:128026158..128028647,3	MCF-7	breast:
3	chr7:127992585..127993570-chr7:128027268..128027996,2	K562	blood:
4	chr7:127987695..127989209-chr7:128025745..128028216,2	MCF-7	breast:
5	chr7:127999931..128002106-chr7:128027139..128029392,2	MCF-7	breast:
6	chr7:127989814..127992283-chr7:128027367..128029799,2	MCF-7	breast:
7	chr7:127986462..127988750-chr7:128027167..128028806,32	MCF-7	breast:
8	chr7:127985149..127987590-chr7:128025548..128027554,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10228542	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.94[YRI][hapmap]
rs10247945	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10273872	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1560215	1.00[CEU][hapmap]
rs17152065	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap]
rs28580600	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4728106	0.95[AFR][1000 genomes]
rs4731449	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6978246	1.00[CEU][hapmap]
rs714510	0.81[EUR][1000 genomes]
rs714511	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72624928	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs732831	0.84[LWK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs7779455	0.91[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs7779818	0.86[EUR][1000 genomes]
rs7779945	1.00[CEU][hapmap]
rs7781310	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7784120	1.00[CEU][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6944392	CCDC136	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128031200	Weak transcription	A549	lung
6	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:128022000-128027400	Weak transcription	Adipose Nuclei	Adipose
8	chr7:128022000-128027600	Weak transcription	Spleen	Spleen
9	chr7:128023000-128027600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:128023200-128028000	Weak transcription	K562	blood
11	chr7:128024200-128027400	Weak transcription	HSMM	muscle
12	chr7:128024200-128027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
14	chr7:128024200-128034600	Weak transcription	HMEC	breast
15	chr7:128024600-128027400	Weak transcription	HSMMtube	muscle
16	chr7:128024600-128027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
18	chr7:128025200-128028200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:128025400-128027800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:128025800-128027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:128026000-128028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:128026600-128027400	Enhancers	Brain Germinal Matrix	brain
23	chr7:128026600-128028400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:128026600-128030000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128026600-128030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:128026600-128030400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:128026800-128027400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:128026800-128030400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:128027000-128027600	Enhancers	Brain Angular Gyrus	brain
30	chr7:128027000-128027800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:128027000-128028000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:128027000-128028000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:128027000-128028200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:128027200-128027400	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:128027200-128027400	Enhancers	Fetal Muscle Leg	muscle
36	chr7:128027200-128027600	Enhancers	Brain Hippocampus Middle	brain
37	chr7:128027200-128027600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:128027200-128027600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr7:128027200-128027800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:128027200-128027800	Enhancers	Fetal Brain Male	brain
41	chr7:128027200-128027800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr7:128027200-128027800	Enhancers	Ovary	ovary
43	chr7:128027200-128028000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:128027200-128028000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr7:128027200-128030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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