Variant report

Variant	rs4775127
Chromosome Location	chr15:59494859-59494860
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59494850-59495354	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:59494844-59495628	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:59494840-59494930	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:59494808-59495270	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:54241159..54241659-chr15:59494796..59495327,2	Hela-S3	cervix:

Variant related genes	Relation type
LDHAL6B	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11071415	1.00[EUR][1000 genomes]
rs11636223	1.00[EUR][1000 genomes]
rs4775112	1.00[EUR][1000 genomes]
rs4775122	1.00[EUR][1000 genomes]
rs4775132	1.00[EUR][1000 genomes]
rs4775133	1.00[EUR][1000 genomes]
rs4775134	1.00[EUR][1000 genomes]
rs6494076	1.00[EUR][1000 genomes]
rs7166294	1.00[EUR][1000 genomes]
rs7166690	1.00[EUR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59464400-59496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
3	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
4	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr15:59475200-59503200	Strong transcription	Liver	Liver
6	chr15:59475800-59498200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:59477000-59498000	Strong transcription	GM12878-XiMat	blood
9	chr15:59480200-59499200	Weak transcription	Fetal Lung	lung
10	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:59480600-59496400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:59481400-59496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:59482800-59499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:59484200-59499400	Weak transcription	Fetal Kidney	kidney
17	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:59485600-59505800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:59487200-59502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:59487600-59498000	Weak transcription	Right Ventricle	heart
22	chr15:59487600-59499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:59487800-59495800	Weak transcription	Colonic Mucosa	Colon
24	chr15:59487800-59495800	Weak transcription	Pancreas	Pancrea
25	chr15:59487800-59495800	Weak transcription	Spleen	Spleen
26	chr15:59487800-59496400	Weak transcription	Psoas Muscle	Psoas
27	chr15:59487800-59498000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
29	chr15:59489600-59503800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:59489800-59501200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr15:59489800-59512600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
33	chr15:59490000-59501200	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:59490000-59501200	Strong transcription	Fetal Stomach	stomach
35	chr15:59490200-59502600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:59490200-59510800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:59490400-59495400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:59490600-59501200	Strong transcription	Ovary	ovary
39	chr15:59491000-59498600	Weak transcription	Esophagus	oesophagus
40	chr15:59491400-59501200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr15:59491400-59501200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:59491600-59503000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:59491800-59498400	Strong transcription	Primary B cells from cord blood	blood
44	chr15:59492000-59495000	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:59492000-59499000	Strong transcription	Lung	lung
46	chr15:59492000-59501200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:59492000-59503600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr15:59492400-59501200	Strong transcription	Gastric	stomach
50	chr15:59492400-59502400	Strong transcription	Fetal Muscle Trunk	muscle

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