Variant report

Variant	rs35286611
Chromosome Location	chr3:47720201-47720202
allele	A/C
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	chr3:47720172-47720372	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:47720154-47720404	K562	blood:	n/a	n/a
3	POLR2A	chr3:47720150-47720377	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47715804..47717955-chr3:47720020..47722528,2	K562	blood:
2	chr3:47705776..47708275-chr3:47720140..47722109,2	K562	blood:
3	chr3:47720048..47725540-chr3:47728543..47732832,5	K562	blood:

Variant related genes	Relation type
SMARCC1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13060272	1.00[EUR][1000 genomes]
rs35057216	1.00[AMR][1000 genomes]
rs71323372	1.00[AMR][1000 genomes]
rs71323373	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
3	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:47701200-47765000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:47701200-47765600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:47701400-47739800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:47701600-47762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:47701600-47800400	Strong transcription	Dnd41	blood
13	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:47701800-47726800	Weak transcription	Right Atrium	heart
15	chr3:47702200-47790400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:47702800-47722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:47704000-47788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:47705600-47727200	Weak transcription	Pancreas	Pancrea
19	chr3:47705600-47742800	Weak transcription	Esophagus	oesophagus
20	chr3:47705800-47739200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:47706200-47728000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr3:47707200-47723000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:47707200-47737000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:47707200-47739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:47707200-47780800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:47707200-47781400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:47707400-47721600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:47707600-47737400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:47707600-47762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:47708400-47737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:47708800-47737000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:47709000-47722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:47709000-47725600	Strong transcription	GM12878-XiMat	blood
34	chr3:47709200-47722200	Strong transcription	Liver	Liver
35	chr3:47709400-47734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:47709800-47732400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:47710000-47722400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:47710200-47722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:47710600-47722000	Strong transcription	Adipose Nuclei	Adipose
40	chr3:47710600-47737200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:47710600-47756600	Strong transcription	Placenta	Placenta
42	chr3:47711000-47724200	Strong transcription	HepG2	liver
43	chr3:47711000-47759400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:47711200-47721400	Strong transcription	HSMM	muscle
45	chr3:47711200-47722000	Strong transcription	Fetal Lung	lung
46	chr3:47711200-47739400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:47711400-47722000	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:47711400-47732800	Weak transcription	Stomach Mucosa	stomach
49	chr3:47711400-47757200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:47711600-47720800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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