Variant report

Variant	rs837449
Chromosome Location	chr4:144333548-144333549
allele	A/G
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	JUND	chr4:144332774-144333726	Hela-S3	cervix:	n/a	chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333049 chr4:144333040-144333050
2	CEBPB	chr4:144332718-144333978	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr4:144332851-144333938	Hela-S3	cervix:	n/a	n/a
4	KAP1	chr4:144332615-144333829	U2OS	brain:	n/a	chr4:144332731-144332739
5	STAT1	chr4:144332674-144334115	Hela-S3	cervix:	n/a	chr4:144333040-144333049
6	EP300	chr4:144332918-144333727	Hela-S3	cervix:	n/a	chr4:144333041-144333050
7	RFX5	chr4:144332864-144333916	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr4:144333522-144333572	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr4:144333055-144333662	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:144333094..144335464-chr4:144340253..144342469,2	MCF-7	breast:
2	chr4:144326817..144330491-chr4:144331809..144335886,3	K562	blood:
3	chr4:144325793..144327781-chr4:144331257..144333636,2	K562	blood:

Variant related genes	Relation type
GAB1	TF binding region

rs_ID	r²[population]
rs1397527	0.88[YRI][hapmap]
rs2661787	0.90[AFR][1000 genomes]
rs2661788	0.94[YRI][hapmap]
rs2666350	0.84[ASW][hapmap];0.94[YRI][hapmap]
rs28925912	1.00[AMR][1000 genomes]

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144312800-144336800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144318200-144337000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:144319200-144336600	Weak transcription	Fetal Kidney	kidney
5	chr4:144322200-144334000	Enhancers	Fetal Heart	heart
6	chr4:144323200-144335800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:144324800-144336800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:144326000-144336600	Weak transcription	Placenta	Placenta
9	chr4:144326200-144337200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:144326600-144336600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:144327200-144337200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:144327600-144337800	Weak transcription	Colonic Mucosa	Colon
13	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:144327800-144388200	Weak transcription	HepG2	liver
15	chr4:144328000-144333600	Enhancers	Colon Smooth Muscle	Colon
16	chr4:144328000-144336400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:144328000-144338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:144328000-144338800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:144328000-144346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
21	chr4:144328600-144337000	Weak transcription	Liver	Liver
22	chr4:144328800-144340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:144329000-144336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:144329000-144359400	Weak transcription	K562	blood
25	chr4:144329200-144338200	Weak transcription	Primary B cells from cord blood	blood
26	chr4:144329400-144336200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:144329400-144336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:144329400-144337200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:144329400-144338600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:144329800-144336400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:144329800-144336600	Weak transcription	Fetal Lung	lung
32	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:144330000-144334200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:144330200-144334000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:144331400-144334000	Enhancers	HUVEC	blood vessel
36	chr4:144331600-144334000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:144331600-144334800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:144332000-144334000	Enhancers	Adipose Nuclei	Adipose
39	chr4:144332000-144337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:144332200-144333800	Enhancers	NHLF	lung
41	chr4:144332200-144336400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:144332400-144333600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:144332400-144333800	Weak transcription	Brain Angular Gyrus	brain
44	chr4:144332400-144334000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:144332400-144337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:144332400-144337600	Weak transcription	Lung	lung
47	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
48	chr4:144332600-144333600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:144332600-144333600	Active TSS	Right Atrium	heart
50	chr4:144332600-144333800	Active TSS	Aorta	Aorta

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