Variant report

Variant	rs4236626
Chromosome Location	chr7:128022492-128022493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128001106..128003195-chr7:128020192..128022783,2	MCF-7	breast:
2	chr7:128021316..128023061-chr7:128045344..128046900,2	MCF-7	breast:
3	chr7:127990359..127992194-chr7:128021875..128024379,2	MCF-7	breast:
4	chr7:128021054..128023079-chr7:128023371..128025635,2	K562	blood:

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1014506	0.81[EUR][1000 genomes]
rs17152072	0.81[EUR][1000 genomes]
rs1864233	0.86[EUR][1000 genomes]
rs2288553	0.86[EUR][1000 genomes]
rs28364722	0.86[EUR][1000 genomes]
rs4728109	0.81[EUR][1000 genomes]
rs6952886	0.81[EUR][1000 genomes]
rs72624969	0.94[EUR][1000 genomes]

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
rs4236626	C7orf68,LOC100133744	cis	occipital cortex	BrainEAC

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128006800-128023400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:128018400-128024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128018600-128025000	Enhancers	Fetal Muscle Leg	muscle
5	chr7:128018800-128024600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:128019000-128023400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:128019000-128024600	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:128019200-128024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:128019200-128024600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:128019400-128024600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:128020000-128023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:128020000-128024200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:128020000-128025200	Enhancers	Fetal Thymus	thymus
14	chr7:128020600-128023000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:128020600-128023000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:128020800-128024200	Enhancers	Esophagus	oesophagus
17	chr7:128021000-128022600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:128021000-128023000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
20	chr7:128021200-128023000	Weak transcription	Thymus	Thymus
21	chr7:128021200-128024200	Enhancers	HSMM	muscle
22	chr7:128021400-128023200	Enhancers	K562	blood
23	chr7:128021400-128031200	Weak transcription	Lung	lung
24	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:128021800-128025600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:128021800-128026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:128021800-128031200	Weak transcription	A549	lung
28	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:128022000-128023400	Weak transcription	Hela-S3	cervix
30	chr7:128022000-128023800	Weak transcription	HMEC	breast
31	chr7:128022000-128027400	Weak transcription	Adipose Nuclei	Adipose
32	chr7:128022000-128027600	Weak transcription	Spleen	Spleen
33	chr7:128022200-128024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:128022200-128024000	Weak transcription	NHEK	skin
35	chr7:128022400-128022800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:128022400-128022800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:128022400-128022800	Weak transcription	HSMMtube	muscle
38	chr7:128022400-128023000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:128022400-128024200	Enhancers	Skeletal Muscle Female	skeletal muscle

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