Variant report

Variant	rs34096390
Chromosome Location	chr5:115827506-115827507
allele	C/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	EP300	chr5:115826027-115829624	SK-N-SH	brain:	n/a	chr5:115827998-115828012
2	GATA3	chr5:115827401-115828795	SK-N-SH	brain:	n/a	chr5:115828485-115828502
3	PBX3	chr5:115827362-115828221	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr5:115827336-115827520	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:115827495-115827510	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr5:115827359-115828893	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr5:115827319-115828262	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr5:115827322-115827520	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr5:115827434-115828288	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr5:115827430-115828893	SK-N-SH	brain:	n/a	chr5:115828485-115828502

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115827002..115828823-chr5:115832188..115835084,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region

rs_ID	r²[population]
rs13357666	1.00[EUR][1000 genomes]
rs17139647	1.00[EUR][1000 genomes]
rs17139650	1.00[EUR][1000 genomes]
rs17139664	1.00[EUR][1000 genomes]
rs17139698	1.00[EUR][1000 genomes]
rs35990802	1.00[EUR][1000 genomes]
rs59324218	1.00[EUR][1000 genomes]
rs73781091	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115783600-115829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:115791600-115838000	Weak transcription	Right Ventricle	heart
3	chr5:115796000-115833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:115797000-115834800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:115797000-115838400	Strong transcription	Placenta	Placenta
6	chr5:115797400-115833800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:115797600-115834600	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr5:115797800-115834800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:115798000-115833200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:115798000-115834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:115799000-115830400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:115799400-115832000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:115803400-115833200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:115813600-115831800	Strong transcription	Fetal Stomach	stomach
15	chr5:115813600-115832000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:115813800-115830600	Weak transcription	HepG2	liver
17	chr5:115813800-115833600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:115813800-115851000	Weak transcription	Liver	Liver
19	chr5:115814000-115830200	Weak transcription	Esophagus	oesophagus
20	chr5:115814000-115850200	Weak transcription	Small Intestine	intestine
21	chr5:115814800-115827800	Weak transcription	Fetal Heart	heart
22	chr5:115816000-115830400	Weak transcription	Lung	lung
23	chr5:115816000-115838400	Weak transcription	Spleen	Spleen
24	chr5:115816400-115830000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:115816400-115830400	Weak transcription	Primary B cells from cord blood	blood
26	chr5:115816800-115840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:115817600-115828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:115817600-115829600	Weak transcription	Pancreas	Pancrea
29	chr5:115818600-115830000	Weak transcription	Colonic Mucosa	Colon
30	chr5:115818600-115833200	Weak transcription	Fetal Brain Male	brain
31	chr5:115820000-115830200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:115820000-115832600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:115821400-115828600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:115821400-115833400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:115821600-115828800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr5:115822400-115827600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:115822600-115830000	Weak transcription	Adipose Nuclei	Adipose
38	chr5:115822600-115832200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:115823000-115842600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:115823200-115827600	Strong transcription	Fetal Intestine Large	intestine
41	chr5:115823200-115827600	Strong transcription	Fetal Intestine Small	intestine
42	chr5:115823200-115832000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr5:115823400-115827600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:115824000-115833600	Weak transcription	Ovary	ovary
45	chr5:115824200-115828000	Weak transcription	Fetal Brain Female	brain
46	chr5:115824400-115827800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:115824400-115828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:115824800-115827800	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:115825400-115827600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:115825400-115828200	Weak transcription	Fetal Kidney	kidney

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