Variant report

Variant	rs185494104
Chromosome Location	chr1:224344812-224344813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224323938..224326362-chr1:224344749..224346885,2	K562	blood:
2	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:
3	chr1:224344124..224346422-chr1:224442860..224444881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221406	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a
6	nsv945321	chr1:224344064-224347532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
5	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
7	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
9	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
13	chr1:224322000-224345400	Weak transcription	HMEC	breast
14	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
17	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
18	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:224327800-224345000	Weak transcription	Aorta	Aorta
20	chr1:224327800-224345000	Weak transcription	Esophagus	oesophagus
21	chr1:224328200-224345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:224329600-224345200	Weak transcription	Osteobl	bone
23	chr1:224329800-224345200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:224330600-224345000	Weak transcription	Spleen	Spleen
25	chr1:224332400-224345000	Weak transcription	Fetal Brain Female	brain
26	chr1:224333600-224345000	Weak transcription	Thymus	Thymus
27	chr1:224333800-224345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:224333800-224345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:224335800-224349600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:224338400-224349200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:224339000-224350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:224340200-224348400	Strong transcription	Fetal Thymus	thymus
34	chr1:224340800-224347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:224340800-224348200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:224340800-224349000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:224341000-224345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:224341000-224349800	Strong transcription	Fetal Intestine Large	intestine
39	chr1:224341400-224345000	Weak transcription	NHEK	skin
40	chr1:224341600-224349200	Strong transcription	A549	lung
41	chr1:224342000-224345000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:224342200-224345000	Weak transcription	Lung	lung
43	chr1:224342400-224345000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:224342600-224348400	Strong transcription	Primary T cells from cord blood	blood
45	chr1:224342800-224348600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:224343000-224345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:224343000-224346800	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:224343000-224348200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:224343000-224350000	Strong transcription	Liver	Liver
50	chr1:224343000-224350200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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